RIPK4 (receptor interacting serine/threonine kinase 4) - Rat Genome Database

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Gene: RIPK4 (receptor interacting serine/threonine kinase 4) Homo sapiens
Analyze
Symbol: RIPK4
Name: receptor interacting serine/threonine kinase 4
RGD ID: 1323281
HGNC Page HGNC:496
Description: Enables protein serine/threonine kinase activity. Involved in morphogenesis of an epithelium; positive regulation of NF-kappaB transcription factor activity; and protein phosphorylation. Predicted to be located in membrane. Predicted to be active in cytoplasm.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: ANKK2; ANKRD3; ankyrin repeat domain 3; ankyrin repeat domain-containing protein 3; CHANDS; DIK; MGC129992; MGC129993; NKRD3; PKC-delta-interacting protein kinase; PKK; PPS2; protein kinase C-associated kinase; receptor-interacting serine-threonine kinase 4; receptor-interacting serine/threonine-protein kinase 4; RIP4; serine/threonine-protein kinase ANKRD3
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382141,739,373 - 41,767,052 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2141,739,369 - 41,767,089 (-)EnsemblGRCh38hg38GRCh38
GRCh372143,159,533 - 43,187,212 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362142,032,598 - 42,060,318 (-)NCBINCBI36Build 36hg18NCBI36
Build 342142,032,597 - 42,060,318NCBI
Celera2128,309,333 - 28,337,056 (-)NCBICelera
Cytogenetic Map21q22.3NCBI
HuRef2128,579,429 - 28,607,166 (-)NCBIHuRef
CHM1_12142,720,210 - 42,748,089 (-)NCBICHM1_1
T2T-CHM13v2.02140,129,762 - 40,157,439 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Ablepharon  (IAGP)
Abnormal cardiovascular system morphology  (IAGP)
Abnormal oral frenulum morphology  (IAGP)
Absent external genitalia  (IAGP)
Absent eyebrow  (IAGP)
Absent eyelashes  (IAGP)
Absent palmar crease  (IAGP)
Absent radius  (IAGP)
Absent thumb  (IAGP)
Agenesis of maxillary incisor  (IAGP)
Agenesis of permanent teeth  (IAGP)
Alopecia  (IAGP)
Alopecia totalis  (IAGP)
Ambiguous genitalia  (IAGP)
Anal atresia  (IAGP)
Anal stenosis  (IAGP)
Ankyloblepharon  (IAGP)
Anonychia  (IAGP)
Aplasia/Hypoplasia of the distal phalanges of the toes  (IAGP)
Aplasia/Hypoplasia of the eyebrow  (IAGP)
Arthrogryposis multiplex congenita  (IAGP)
Ataxia  (IAGP)
Atelectasis  (IAGP)
Autosomal recessive inheritance  (IAGP)
Axillary pterygium  (IAGP)
Bicornuate uterus  (IAGP)
Bifid tongue  (IAGP)
Bilateral cryptorchidism  (IAGP)
Blepharophimosis  (IAGP)
Cicatricial lagophthalmos  (IAGP)
Cleft palate  (IAGP)
Cleft upper lip  (IAGP)
Commissural lip pit  (IAGP)
Congenital onset  (IAGP)
Corneal opacity  (IAGP)
Corneal ulceration  (IAGP)
Cupped ear  (IAGP)
Curly hair  (IAGP)
Decreased fetal movement  (IAGP)
Depressed nasal bridge  (IAGP)
Dry skin  (IAGP)
Ectopic kidney  (IAGP)
Ectropion  (IAGP)
Eyelid coloboma  (IAGP)
Fetal onset  (IAGP)
Finger syndactyly  (IAGP)
Flexion contracture  (IAGP)
Generalized myoclonic seizure  (IAGP)
Hydroureter  (IAGP)
Hypertelorism  (IAGP)
Hypohidrosis  (IAGP)
Hypoplasia of the maxilla  (IAGP)
Hypoplastic iliac wing  (IAGP)
Hypoplastic labia majora  (IAGP)
Hypoplastic male external genitalia  (IAGP)
Hypoplastic scapulae  (IAGP)
Hypoplastic toenails  (IAGP)
Imperforate hymen  (IAGP)
Inferiorly positioned umbilicus  (IAGP)
Inguinal hernia  (IAGP)
Intellectual disability  (IAGP)
Intrauterine growth retardation  (IAGP)
Limb undergrowth  (IAGP)
Low-set ears  (IAGP)
Lower eyelid coloboma  (IAGP)
Mask-like facies  (IAGP)
Median cleft upper lip  (IAGP)
Microcephaly  (IAGP)
Micrognathia  (IAGP)
Micropenis  (IAGP)
Microphthalmia  (IAGP)
Microtia  (IAGP)
Motor delay  (IAGP)
Nail dysplasia  (IAGP)
Narrow mouth  (IAGP)
Oligodactyly  (IAGP)
Omphalocele  (IAGP)
Opacification of the corneal stroma  (IAGP)
Oral synechia  (IAGP)
Patent foramen ovale  (IAGP)
Popliteal pterygium  (IAGP)
Pterygium  (IAGP)
Renal hypoplasia/aplasia  (IAGP)
Short fifth metatarsal  (IAGP)
Short metacarpal  (IAGP)
Short neck  (IAGP)
Short nose  (IAGP)
Short phalanx of finger  (IAGP)
Short thumb  (IAGP)
Skin erosion  (IAGP)
Skin tags  (IAGP)
Small nail  (IAGP)
Sparse or absent eyelashes  (IAGP)
Sparse scalp hair  (IAGP)
Syndactyly  (IAGP)
Synostosis of joints  (IAGP)
Talipes  (IAGP)
Talipes equinovarus  (IAGP)
Tessier cleft  (IAGP)
Toe syndactyly  (IAGP)
Ulnar bowing  (IAGP)
Underdeveloped nasal alae  (IAGP)
Upslanted palpebral fissure  (IAGP)
Wide intermamillary distance  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
3. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
5. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:8889548   PMID:9199174   PMID:10830953   PMID:10948194   PMID:11278382   PMID:12446564   PMID:12477932   PMID:12676934   PMID:12747765   PMID:14702039   PMID:17039240   PMID:18025152  
PMID:18511573   PMID:19818768   PMID:20379614   PMID:21873635   PMID:21903422   PMID:21931591   PMID:22197488   PMID:23371553   PMID:24413083   PMID:24519546   PMID:25096806   PMID:25134534  
PMID:25246526   PMID:25285922   PMID:25784454   PMID:26091241   PMID:26129644   PMID:26186194   PMID:26972000   PMID:27014863   PMID:27045108   PMID:27667567   PMID:27697098   PMID:28514442  
PMID:28574510   PMID:28940926   PMID:29257245   PMID:29435596   PMID:29436617   PMID:29507755   PMID:29718933   PMID:29867225   PMID:30021884   PMID:30044012   PMID:30212707   PMID:31825120  
PMID:32016450   PMID:32296183   PMID:32707033   PMID:33487072   PMID:33713555   PMID:33855091   PMID:33961781   PMID:34124253   PMID:34186245   PMID:34414590   PMID:34768934   PMID:35186499  
PMID:35220430   PMID:35271311   PMID:35914814   PMID:36358656   PMID:38064252   PMID:38086167   PMID:38179758   PMID:38656555   PMID:38664501  


Genomics

Comparative Map Data
RIPK4
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382141,739,373 - 41,767,052 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2141,739,369 - 41,767,089 (-)EnsemblGRCh38hg38GRCh38
GRCh372143,159,533 - 43,187,212 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362142,032,598 - 42,060,318 (-)NCBINCBI36Build 36hg18NCBI36
Build 342142,032,597 - 42,060,318NCBI
Celera2128,309,333 - 28,337,056 (-)NCBICelera
Cytogenetic Map21q22.3NCBI
HuRef2128,579,429 - 28,607,166 (-)NCBIHuRef
CHM1_12142,720,210 - 42,748,089 (-)NCBICHM1_1
T2T-CHM13v2.02140,129,762 - 40,157,439 (-)NCBIT2T-CHM13v2.0
Ripk4
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391697,543,133 - 97,564,979 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1697,543,133 - 97,564,987 (-)EnsemblGRCm39 Ensembl
GRCm381697,741,933 - 97,763,779 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1697,741,933 - 97,763,787 (-)EnsemblGRCm38mm10GRCm38
MGSCv371697,963,549 - 97,985,362 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361697,896,858 - 97,918,671 (-)NCBIMGSCv36mm8
Celera1698,801,182 - 98,822,963 (-)NCBICelera
Cytogenetic Map16C4NCBI
cM Map1657.63NCBI
Ripk4
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81150,591,926 - 50,614,169 (-)NCBIGRCr8
mRatBN7.21137,122,555 - 37,144,799 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1137,122,565 - 37,144,799 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1145,822,982 - 45,845,215 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01138,494,368 - 38,516,601 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01137,654,317 - 37,676,551 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01138,251,991 - 38,274,234 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1138,251,955 - 38,274,217 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01141,762,121 - 41,784,396 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41137,767,796 - 37,790,029 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11137,826,563 - 37,847,572 (-)NCBI
Celera1137,007,084 - 37,029,287 (-)NCBICelera
Cytogenetic Map11q12NCBI
Ripk4
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540739,728,634 - 39,748,791 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495540739,728,645 - 39,748,752 (+)NCBIChiLan1.0ChiLan1.0
RIPK4
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22237,809,930 - 37,838,106 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12132,664,039 - 32,692,016 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02128,062,975 - 28,091,323 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12141,389,654 - 41,417,472 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2141,389,654 - 41,417,472 (-)Ensemblpanpan1.1panPan2
RIPK4
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13136,168,172 - 36,196,600 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3136,169,530 - 36,196,600 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3135,320,818 - 35,349,150 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.03135,685,866 - 35,714,030 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl3135,685,874 - 35,713,505 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.13135,579,728 - 35,607,542 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.03135,559,337 - 35,587,482 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.03136,053,717 - 36,081,870 (-)NCBIUU_Cfam_GSD_1.0
Ripk4
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440497135,429,038 - 35,450,299 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365002,017,518 - 2,039,108 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365002,017,519 - 2,038,777 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
RIPK4
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl13205,127,244 - 205,153,005 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.113205,127,239 - 205,153,000 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.213215,452,677 - 215,478,450 (-)NCBISscrofa10.2Sscrofa10.2susScr3
RIPK4
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1285,627,307 - 85,654,079 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl285,627,073 - 85,653,927 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605413,482,906 - 13,509,670 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Ripk4
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462474528,461,900 - 28,481,813 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462474528,461,948 - 28,481,721 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in RIPK4
254 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_020639.3(RIPK4):c.1127C>A (p.Ser376Ter) single nucleotide variant Bartsocas-Papas syndrome 1 [RCV000023468] Chr21:41743950 [GRCh38]
Chr21:43164110 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_020639.3(RIPK4):c.242T>A (p.Ile81Asn) single nucleotide variant Bartsocas-Papas syndrome 1 [RCV000023469] Chr21:41756757 [GRCh38]
Chr21:43176917 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_020639.3(RIPK4):c.362T>A (p.Ile121Asn) single nucleotide variant Bartsocas-Papas syndrome 1 [RCV000023470] Chr21:41756637 [GRCh38]
Chr21:43176797 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_020639.3(RIPK4):c.777dup (p.Arg260fs) duplication Bartsocas-Papas syndrome 1 [RCV000023471] Chr21:41746667..41746668 [GRCh38]
Chr21:43166827..43166828 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_020639.3(RIPK4):c.1730C>G (p.Ala577Gly) single nucleotide variant not provided [RCV000722771] Chr21:41741463 [GRCh38]
Chr21:43161623 [GRCh37]
Chr21:21q22.3		 uncertain significance
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3 copy number gain See cases [RCV000050445] Chr21:7749532..46670405 [GRCh38]
Chr21:15499847..48090317 [GRCh37]
Chr21:14421718..46914745 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 21q22.3(chr21:41285201-46670405)x1 copy number loss See cases [RCV000051022] Chr21:41285201..46670405 [GRCh38]
Chr21:42657128..48090317 [GRCh37]
Chr21:41578998..46914745 [NCBI36]
Chr21:21q22.3		 pathogenic
GRCh38/hg38 21q22.13-22.3(chr21:37135738-42434515)x1 copy number loss See cases [RCV000051047] Chr21:37135738..42434515 [GRCh38]
Chr21:38508038..43854625 [GRCh37]
Chr21:37429908..42727694 [NCBI36]
Chr21:21q22.13-22.3		 pathogenic
GRCh37/hg19 21q22.1-22.3(chr21:35527952-44298520)x1 copy number loss See cases [RCV000052807] Chr21:35527952..44298520 [GRCh37]
Chr21:34449822..43171589 [NCBI36]
Chr21:21q22.1-22.3		 pathogenic
GRCh38/hg38 21q22.12-22.3(chr21:35027972-46670405)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052836]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052836]|See cases [RCV000052836] Chr21:35027972..46670405 [GRCh38]
Chr21:36400269..48090317 [GRCh37]
Chr21:35322139..46914745 [NCBI36]
Chr21:21q22.12-22.3		 pathogenic
GRCh38/hg38 21q22.13-22.3(chr21:38273492-46670405)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052838]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052838]|See cases [RCV000052838] Chr21:38273492..46670405 [GRCh38]
Chr21:39645414..48090317 [GRCh37]
Chr21:38567284..46914745 [NCBI36]
Chr21:21q22.13-22.3		 pathogenic
GRCh38/hg38 21q22.2-22.3(chr21:40127825-46670546)x1 copy number loss See cases [RCV000052839] Chr21:40127825..46670546 [GRCh38]
Chr21:41499752..48090458 [GRCh37]
Chr21:40421622..46914886 [NCBI36]
Chr21:21q22.2-22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3 copy number gain See cases [RCV000053042] Chr21:7749532..46623792 [GRCh38]
Chr21:14595524..48043704 [GRCh37]
Chr21:13517395..46868132 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3 copy number gain See cases [RCV000053043] Chr21:7749532..46623792 [GRCh38]
Chr21:14629063..48043704 [GRCh37]
Chr21:13550934..46868132 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670546)x3 copy number gain See cases [RCV000053045] Chr21:7749532..46670546 [GRCh38]
Chr21:15499647..48090458 [GRCh37]
Chr21:14421518..46914886 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46661140)x3 copy number gain See cases [RCV000053065] Chr21:7749532..46661140 [GRCh38]
Chr21:15499647..48081052 [GRCh37]
Chr21:14421518..46905480 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46661140)x3 copy number gain See cases [RCV000053067] Chr21:7749532..46661140 [GRCh38]
Chr21:15499847..48081052 [GRCh37]
Chr21:14421718..46905480 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3 copy number gain See cases [RCV000053068] Chr21:7749532..46670405 [GRCh38]
Chr21:20655360..48090317 [GRCh37]
Chr21:19577231..46914745 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3 copy number gain See cases [RCV000053069] Chr21:7749532..46670405 [GRCh38]
Chr21:34423268..48090317 [GRCh37]
Chr21:33345138..46914745 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3 copy number gain See cases [RCV000053039] Chr21:7749532..46623792 [GRCh38]
Chr21:14524963..48043704 [GRCh37]
Chr21:13446834..46868132 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653090)x3 copy number gain See cases [RCV000053040] Chr21:7749532..46653090 [GRCh38]
Chr21:14539679..48073002 [GRCh37]
Chr21:13461550..46897430 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
NM_020639.3(RIPK4):c.1884C>T (p.Ser628=) single nucleotide variant Bartsocas-Papas syndrome 1 [RCV000384257]|RIPK4-related disorder [RCV003937536]|not provided [RCV000960318]|not specified [RCV000171349] Chr21:41741309 [GRCh38]
Chr21:43161469 [GRCh37]
Chr21:21q22.3		 likely pathogenic|benign|likely benign|uncertain significance
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-42971047)x3 copy number gain See cases [RCV000133676] Chr21:7749532..42971047 [GRCh38]
Chr21:15499847..44391157 [GRCh37]
Chr21:14421718..43264226 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653084)x3 copy number gain See cases [RCV000134727] Chr21:7749532..46653084 [GRCh38]
Chr21:15485038..48072996 [GRCh37]
Chr21:14406909..46897424 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46649831)x3 copy number gain See cases [RCV000134509] Chr21:7749532..46649831 [GRCh38]
Chr21:14577835..48069743 [GRCh37]
Chr21:13499706..46894171 [NCBI36]
Chr21:21q11.2-22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3 copy number gain See cases [RCV000134119] Chr21:7749532..46670440 [GRCh38]
Chr21:15485038..48090352 [GRCh37]
Chr21:14406909..46914780 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21q22.11-22.3(chr21:7749532-46670346)x3 copy number gain See cases [RCV000135310] Chr21:7749532..46670346 [GRCh38]
Chr21:34111831..48090258 [GRCh37]
Chr21:33033702..46914686 [NCBI36]
Chr21:21q22.11-22.3		 pathogenic
GRCh38/hg38 21q22.12-22.3(chr21:36206067-46670405)x3 copy number gain See cases [RCV000134972] Chr21:36206067..46670405 [GRCh38]
Chr21:37578365..48090317 [GRCh37]
Chr21:36500235..46914745 [NCBI36]
Chr21:21q22.12-22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46664250)x3 copy number gain See cases [RCV000134836] Chr21:7749532..46664250 [GRCh38]
Chr21:15485038..48084162 [GRCh37]
Chr21:14406909..46908590 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3 copy number gain See cases [RCV000134842] Chr21:7749532..46670440 [GRCh38]
Chr21:15513244..48090352 [GRCh37]
Chr21:14435115..46914780 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46660999)x3 copy number gain See cases [RCV000135448] Chr21:7749532..46660999 [GRCh38]
Chr21:15499847..48080911 [GRCh37]
Chr21:14421718..46905339 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21q22.13-22.3(chr21:36519173-46670405)x3 copy number gain See cases [RCV000136142] Chr21:36519173..46670405 [GRCh38]
Chr21:37891471..48090317 [GRCh37]
Chr21:36813341..46914745 [NCBI36]
Chr21:21q22.13-22.3		 pathogenic
GRCh38/hg38 21q22.12-22.3(chr21:34789953-46636538)x1 copy number loss See cases [RCV000136828] Chr21:34789953..46636538 [GRCh38]
Chr21:36162250..48056450 [GRCh37]
Chr21:35084120..46880878 [NCBI36]
Chr21:21q22.12-22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3 copy number gain See cases [RCV000137337] Chr21:7749532..46671060 [GRCh38]
Chr21:10697897..48090972 [GRCh37]
Chr21:1..46915400 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3 copy number gain See cases [RCV000137255] Chr21:7749532..46671060 [GRCh38]
Chr21:35319225..48090972 [GRCh37]
Chr21:34241095..46915400 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21q22.3(chr21:41733640-46671060)x1 copy number loss See cases [RCV000137341] Chr21:41733640..46671060 [GRCh38]
Chr21:43153800..48090972 [GRCh37]
Chr21:42026869..46915400 [NCBI36]
Chr21:21q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3 copy number gain See cases [RCV000138216] Chr21:7749532..46671060 [GRCh38]
Chr21:10944001..48090972 [GRCh37]
Chr21:9965872..46915400 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21q22.13-22.3(chr21:37669628-46671060)x1 copy number loss See cases [RCV000138096] Chr21:37669628..46671060 [GRCh38]
Chr21:39041930..48090972 [GRCh37]
Chr21:37963800..46915400 [NCBI36]
Chr21:21q22.13-22.3		 pathogenic
GRCh38/hg38 21q22.12-22.3(chr21:36066991-46671060)x3 copy number gain See cases [RCV000138164] Chr21:36066991..46671060 [GRCh38]
Chr21:37439289..48090972 [GRCh37]
Chr21:36361159..46915400 [NCBI36]
Chr21:21q22.12-22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3 copy number gain See cases [RCV000138436] Chr21:7749532..46671060 [GRCh38]
Chr21:15451032..48090972 [GRCh37]
Chr21:14372903..46915400 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic|conflicting data from submitters
GRCh38/hg38 21q22.2-22.3(chr21:40296025-46670440)x1 copy number loss See cases [RCV000139158] Chr21:40296025..46670440 [GRCh38]
Chr21:41667952..48090352 [GRCh37]
Chr21:40589822..46914780 [NCBI36]
Chr21:21q22.2-22.3		 pathogenic
GRCh38/hg38 21q22.3(chr21:41702859-41855368)x3 copy number gain See cases [RCV000140096] Chr21:41702859..41855368 [GRCh38]
Chr21:43123019..43275477 [GRCh37]
Chr21:41996088..42148546 [NCBI36]
Chr21:21q22.3		 uncertain significance
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46670346)x3 copy number gain See cases [RCV000140103] Chr21:7749532..46670346 [GRCh38]
Chr21:14577894..48090258 [GRCh37]
Chr21:13499765..46914686 [NCBI36]
Chr21:21q11.2-22.3		 pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46698247)x3 copy number gain See cases [RCV000141346] Chr21:7749532..46698247 [GRCh38]
Chr21:14577835..48118159 [GRCh37]
Chr21:13499706..46942587 [NCBI36]
Chr21:21q11.2-22.3		 pathogenic
GRCh38/hg38 21q21.3-22.3(chr21:7749532-46677460)x3 copy number gain See cases [RCV000141827] Chr21:7749532..46677460 [GRCh38]
Chr21:28285299..48097372 [GRCh37]
Chr21:27207170..46921800 [NCBI36]
Chr21:21q21.3-22.3		 uncertain significance
GRCh38/hg38 21q22.2-22.3(chr21:38816399-46677460)x1 copy number loss See cases [RCV000142311] Chr21:38816399..46677460 [GRCh38]
Chr21:40188323..48097372 [GRCh37]
Chr21:39110193..46921800 [NCBI36]
Chr21:21q22.2-22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7817158-46670440)x1 copy number loss See cases [RCV000142427] Chr21:7817158..46670440 [GRCh38]
Chr21:15485038..48090352 [GRCh37]
Chr21:14406909..46914780 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21q22.2-22.3(chr21:39375937-44246148)x1 copy number loss See cases [RCV000142650] Chr21:39375937..44246148 [GRCh38]
Chr21:40747863..45666031 [GRCh37]
Chr21:39669733..44490459 [NCBI36]
Chr21:21q22.2-22.3		 pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3 copy number gain See cases [RCV000143376] Chr21:7749532..46677460 [GRCh38]
Chr21:15006458..48097372 [GRCh37]
Chr21:13928329..46921800 [NCBI36]
Chr21:21q11.2-22.3		 pathogenic
GRCh38/hg38 21q22.3(chr21:41368412-42556043)x3 copy number gain See cases [RCV000143383] Chr21:41368412..42556043 [GRCh38]
Chr21:42740339..43976153 [GRCh37]
Chr21:41662209..42849222 [NCBI36]
Chr21:21q22.3		 likely benign|uncertain significance
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460) copy number gain See cases [RCV000143160] Chr21:7749532..46677460 [GRCh38]
Chr21:14386013..48097372 [GRCh37]
Chr21:13307884..46921800 [NCBI36]
Chr21:21q11.2-22.3		 pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3 copy number gain See cases [RCV000143120] Chr21:7749532..46677460 [GRCh38]
Chr21:15006457..48097372 [GRCh37]
Chr21:13928328..46921800 [NCBI36]
Chr21:21q11.2-22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3 copy number gain See cases [RCV000148131] Chr21:7749532..46670405 [GRCh38]
Chr21:15499847..48090317 [GRCh37]
Chr21:14421718..46914745 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
NM_020639.3(RIPK4):c.2101C>T (p.Pro701Ser) single nucleotide variant Bartsocas-Papas syndrome 1 [RCV001140285]|RIPK4-related disorder [RCV003919909]|not provided [RCV000224013] Chr21:41741092 [GRCh38]
Chr21:43161252 [GRCh37]
Chr21:21q22.3		 benign|likely benign
GRCh37/hg19 21q11.2-22.3(chr21:15538655-48080926)x1 copy number loss See cases [RCV000239948] Chr21:15538655..48080926 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
GRCh37/hg19 21q22.2-22.3(chr21:39841248-44652723)x3 copy number gain See cases [RCV000239953] Chr21:39841248..44652723 [GRCh37]
Chr21:21q22.2-22.3		 pathogenic
NM_020639.3(RIPK4):c.1005G>T (p.Leu335=) single nucleotide variant Bartsocas-Papas syndrome 1 [RCV000398046]|not provided [RCV001651240]|not specified [RCV000248581] Chr21:41744072 [GRCh38]
Chr21:43164232 [GRCh37]
Chr21:21q22.3		 benign
NM_020639.3(RIPK4):c.1203C>T (p.Gly401=) single nucleotide variant Bartsocas-Papas syndrome 1 [RCV000398058]|not provided [RCV001597022]|not specified [RCV000253546] Chr21:41741990 [GRCh38]
Chr21:43162150 [GRCh37]
Chr21:21q22.3		 benign
GRCh37/hg19 21q11.2-22.3(chr21:15410701-48090317)x3 copy number gain See cases [RCV000240397] Chr21:15410701..48090317 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
NM_020639.3(RIPK4):c.1996A>G (p.Met666Val) single nucleotide variant Bartsocas-Papas syndrome 1 [RCV000361869]|not provided [RCV001640567]|not specified [RCV000241808] Chr21:41741197 [GRCh38]
Chr21:43161357 [GRCh37]
Chr21:21q22.3		 benign
NM_020639.3(RIPK4):c.1548C>T (p.Asp516=) single nucleotide variant Bartsocas-Papas syndrome 1 [RCV000387649]|not provided [RCV001668573]|not specified [RCV000249847] Chr21:41741645 [GRCh38]
Chr21:43161805 [GRCh37]
Chr21:21q22.3		 benign
NM_020639.3(RIPK4):c.2331G>A (p.Thr777=) single nucleotide variant Bartsocas-Papas syndrome 1 [RCV000336076]|not provided [RCV001640568]|not specified [RCV000245188] Chr21:41740862 [GRCh38]
Chr21:43161022 [GRCh37]
Chr21:21q22.3		 benign
NM_020639.3(RIPK4):c.1476G>A (p.Ala492=) single nucleotide variant Bartsocas-Papas syndrome 1 [RCV000334409]|not provided [RCV001711727]|not specified [RCV000245571] Chr21:41741717 [GRCh38]
Chr21:43161877 [GRCh37]
Chr21:21q22.3		 benign
NM_020639.3(RIPK4):c.*281G>A single nucleotide variant Bartsocas-Papas syndrome 1 [RCV000286407] Chr21:41740557 [GRCh38]
Chr21:43160717 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_020639.3(RIPK4):c.1617G>A (p.Thr539=) single nucleotide variant Bartsocas-Papas syndrome 1 [RCV000273467]|RIPK4-related disorder [RCV003912430]|not provided [RCV000887294] Chr21:41741576 [GRCh38]
Chr21:43161736 [GRCh37]
Chr21:21q22.3		 benign|likely benign|uncertain significance
NM_020639.3(RIPK4):c.1980C>T (p.Gly660=) single nucleotide variant Bartsocas-Papas syndrome 1 [RCV000269731]|not provided [RCV000911042] Chr21:41741213 [GRCh38]
Chr21:43161373 [GRCh37]
Chr21:21q22.3		 benign|uncertain significance
NM_020639.3(RIPK4):c.1193G>T (p.Ser398Ile) single nucleotide variant Bartsocas-Papas syndrome 1 [RCV000309350] Chr21:41743884 [GRCh38]
Chr21:43164044 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_020639.3(RIPK4):c.*715A>G single nucleotide variant Bartsocas-Papas syndrome 1 [RCV000356454] Chr21:41740123 [GRCh38]
Chr21:43160283 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_020639.3(RIPK4):c.630G>C (p.Ala210=) single nucleotide variant Bartsocas-Papas syndrome 1 [RCV000356808]|not provided [RCV001691969] Chr21:41749197 [GRCh38]
Chr21:43169357 [GRCh37]
Chr21:21q22.3		 benign|likely benign
NM_020639.3(RIPK4):c.2145C>T (p.His715=) single nucleotide variant Bartsocas-Papas syndrome 1 [RCV000358629]|RIPK4-related disorder [RCV003950178]|not provided [RCV000907434] Chr21:41741048 [GRCh38]
Chr21:43161208 [GRCh37]
Chr21:21q22.3		 benign|uncertain significance
NM_020639.3(RIPK4):c.936+6G>A single nucleotide variant Bartsocas-Papas syndrome 1 [RCV000360372] Chr21:41745753 [GRCh38]
Chr21:43165913 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_020639.3(RIPK4):c.302C>T (p.Thr101Met) single nucleotide variant Bartsocas-Papas syndrome 1 [RCV000277408] Chr21:41756697 [GRCh38]
Chr21:43176857 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_020639.3(RIPK4):c.*782_*783dup duplication Popliteal pterygium syndrome [RCV000314725] Chr21:41740054..41740055 [GRCh38]
Chr21:43160214..43160215 [GRCh37]
Chr21:21q22.3		 benign
NM_020639.3(RIPK4):c.1425G>A (p.Leu475=) single nucleotide variant Bartsocas-Papas syndrome 1 [RCV000372810]|not provided [RCV001572426] Chr21:41741768 [GRCh38]
Chr21:43161928 [GRCh37]
Chr21:21q22.3		 benign|likely benign|uncertain significance
NM_020639.3(RIPK4):c.1311C>T (p.Ser437=) single nucleotide variant Bartsocas-Papas syndrome 1 [RCV000280653]|not provided [RCV000972979] Chr21:41741882 [GRCh38]
Chr21:43162042 [GRCh37]
Chr21:21q22.3		 benign|likely benign
NM_020639.3(RIPK4):c.360A>C (p.Arg120=) single nucleotide variant Bartsocas-Papas syndrome 1 [RCV000317325]|not provided [RCV001672603] Chr21:41756639 [GRCh38]
Chr21:43176799 [GRCh37]
Chr21:21q22.3		 benign|likely benign
NM_020639.3(RIPK4):c.*983G>A single nucleotide variant Bartsocas-Papas syndrome 1 [RCV000368433]|not provided [RCV004717466] Chr21:41739855 [GRCh38]
Chr21:43160015 [GRCh37]
Chr21:21q22.3		 benign
NM_020639.3(RIPK4):c.327T>C (p.Ala109=) single nucleotide variant Bartsocas-Papas syndrome 1 [RCV000371713]|not provided [RCV001712071] Chr21:41756672 [GRCh38]
Chr21:43176832 [GRCh37]
Chr21:21q22.3		 benign|likely benign
NM_020639.3(RIPK4):c.1941G>A (p.Thr647=) single nucleotide variant Bartsocas-Papas syndrome 1 [RCV000327099]|not provided [RCV000890421] Chr21:41741252 [GRCh38]
Chr21:43161412 [GRCh37]
Chr21:21q22.3		 benign|likely benign|uncertain significance
NM_020639.3(RIPK4):c.*578C>A single nucleotide variant Bartsocas-Papas syndrome 1 [RCV000321462] Chr21:41740260 [GRCh38]
Chr21:43160420 [GRCh37]
Chr21:21q22.3		 likely benign
NM_020639.3(RIPK4):c.*978C>G single nucleotide variant Bartsocas-Papas syndrome 1 [RCV000400922] Chr21:41739860 [GRCh38]
Chr21:43160020 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_020639.3(RIPK4):c.*275T>C single nucleotide variant Bartsocas-Papas syndrome 1 [RCV000325157]|not provided [RCV001636952] Chr21:41740563 [GRCh38]
Chr21:43160723 [GRCh37]
Chr21:21q22.3		 benign|likely benign
NM_020639.3(RIPK4):c.*560A>G single nucleotide variant Bartsocas-Papas syndrome 1 [RCV000378577]|not provided [RCV004717467] Chr21:41740278 [GRCh38]
Chr21:43160438 [GRCh37]
Chr21:21q22.3		 benign
NM_020639.3(RIPK4):c.35C>G (p.Ala12Gly) single nucleotide variant Bartsocas-Papas syndrome 1 [RCV000328514]|not provided [RCV001672604] Chr21:41767007 [GRCh38]
Chr21:43187167 [GRCh37]
Chr21:21q22.3		 benign|likely benign
NM_020639.3(RIPK4):c.*219T>G single nucleotide variant Bartsocas-Papas syndrome 1 [RCV000382058]|not provided [RCV001672602] Chr21:41740619 [GRCh38]
Chr21:43160779 [GRCh37]
Chr21:21q22.3		 benign|likely benign
NM_020639.3(RIPK4):c.7G>A (p.Gly3Ser) single nucleotide variant Bartsocas-Papas syndrome 1 [RCV000382992]|not provided [RCV000962844] Chr21:41767035 [GRCh38]
Chr21:43187195 [GRCh37]
Chr21:21q22.3		 benign|likely benign
NM_020639.3(RIPK4):c.*1248C>T single nucleotide variant Bartsocas-Papas syndrome 1 [RCV000288075] Chr21:41739590 [GRCh38]
Chr21:43159750 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_020639.2(RIPK4):c.-44C>G single nucleotide variant Popliteal pterygium syndrome [RCV000288676] Chr21:41767085 [GRCh38]
Chr21:43187245 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_020639.3(RIPK4):c.1587G>A (p.Ser529=) single nucleotide variant Bartsocas-Papas syndrome 1 [RCV000330759]|not provided [RCV000959641] Chr21:41741606 [GRCh38]
Chr21:43161766 [GRCh37]
Chr21:21q22.3		 benign|likely benign
NM_020639.3(RIPK4):c.*215G>T single nucleotide variant Bartsocas-Papas syndrome 1 [RCV000290681] Chr21:41740623 [GRCh38]
Chr21:43160783 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_020639.3(RIPK4):c.159G>A (p.Ser53=) single nucleotide variant Bartsocas-Papas syndrome 1 [RCV000292213]|not provided [RCV001683357] Chr21:41766883 [GRCh38]
Chr21:43187043 [GRCh37]
Chr21:21q22.3		 benign|likely benign
NM_020639.3(RIPK4):c.267C>T (p.Arg89=) single nucleotide variant Bartsocas-Papas syndrome 1 [RCV000386881]|RIPK4-related disorder [RCV003932360]|not provided [RCV000890150] Chr21:41756732 [GRCh38]
Chr21:43176892 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_020639.3(RIPK4):c.*90T>C single nucleotide variant Bartsocas-Papas syndrome 1 [RCV000294062]|not provided [RCV001613118] Chr21:41740748 [GRCh38]
Chr21:43160908 [GRCh37]
Chr21:21q22.3		 benign
NM_020639.3(RIPK4):c.1530T>C (p.Phe510=) single nucleotide variant Bartsocas-Papas syndrome 1 [RCV000295832] Chr21:41741663 [GRCh38]
Chr21:43161823 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_020639.3(RIPK4):c.*1361T>A single nucleotide variant Bartsocas-Papas syndrome 1 [RCV000396320]|not provided [RCV004694637] Chr21:41739477 [GRCh38]
Chr21:43159637 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_020639.3(RIPK4):c.*741G>A single nucleotide variant Bartsocas-Papas syndrome 1 [RCV000260818]|not provided [RCV004703846] Chr21:41740097 [GRCh38]
Chr21:43160257 [GRCh37]
Chr21:21q22.3		 likely benign
NM_020639.3(RIPK4):c.630G>A (p.Ala210=) single nucleotide variant Bartsocas-Papas syndrome 1 [RCV000262093]|not provided [RCV001653651] Chr21:41749197 [GRCh38]
Chr21:43169357 [GRCh37]
Chr21:21q22.3		 benign|likely benign
NM_020639.3(RIPK4):c.2325C>T (p.Ala775=) single nucleotide variant Bartsocas-Papas syndrome 1 [RCV000398627]|RIPK4-related disorder [RCV003932359]|not provided [RCV000939730] Chr21:41740868 [GRCh38]
Chr21:43161028 [GRCh37]
Chr21:21q22.3		 benign|likely benign|uncertain significance
NM_020639.3(RIPK4):c.1243G>A (p.Val415Met) single nucleotide variant Bartsocas-Papas syndrome 1 [RCV000338076]|RIPK4-related disorder [RCV003922484]|not provided [RCV000906527] Chr21:41741950 [GRCh38]
Chr21:43162110 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_020639.3(RIPK4):c.*707G>A single nucleotide variant Bartsocas-Papas syndrome 1 [RCV000263935] Chr21:41740131 [GRCh38]
Chr21:43160291 [GRCh37]
Chr21:21q22.3		 benign|uncertain significance
NM_020639.3(RIPK4):c.2250G>A (p.Thr750=) single nucleotide variant Bartsocas-Papas syndrome 1 [RCV000301399]|RIPK4-related disorder [RCV003897771] Chr21:41740943 [GRCh38]
Chr21:43161103 [GRCh37]
Chr21:21q22.3		 benign|likely benign|uncertain significance
NM_020639.3(RIPK4):c.1164G>A (p.Ser388=) single nucleotide variant Bartsocas-Papas syndrome 1 [RCV000345497] Chr21:41743913 [GRCh38]
Chr21:43164073 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_020639.3(RIPK4):c.*1234G>A single nucleotide variant Bartsocas-Papas syndrome 1 [RCV000346423] Chr21:41739604 [GRCh38]
Chr21:43159764 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_020639.3(RIPK4):c.819G>A (p.Arg273=) single nucleotide variant Bartsocas-Papas syndrome 1 [RCV000265797]|RIPK4-related disorder [RCV003910324]|not provided [RCV000959972] Chr21:41746626 [GRCh38]
Chr21:43166786 [GRCh37]
Chr21:21q22.3		 benign|likely benign|uncertain significance
NM_020639.3(RIPK4):c.2139C>T (p.His713=) single nucleotide variant Bartsocas-Papas syndrome 1 [RCV000266277] Chr21:41741054 [GRCh38]
Chr21:43161214 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_020639.3(RIPK4):c.779G>A (p.Arg260His) single nucleotide variant Bartsocas-Papas syndrome 1 [RCV000302006]|Inborn genetic diseases [RCV004021846] Chr21:41746666 [GRCh38]
Chr21:43166826 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_020639.3(RIPK4):c.*73G>A single nucleotide variant Bartsocas-Papas syndrome 1 [RCV000351276] Chr21:41740765 [GRCh38]
Chr21:43160925 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_020639.3(RIPK4):c.2008G>A (p.Gly670Ser) single nucleotide variant Bartsocas-Papas syndrome 1 [RCV000304785]|not provided [RCV001770273]|not specified [RCV000503822] Chr21:41741185 [GRCh38]
Chr21:43161345 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_020639.3(RIPK4):c.959G>A (p.Arg320Gln) single nucleotide variant Bartsocas-Papas syndrome 1 [RCV000305757]|Inborn genetic diseases [RCV002523180]|not provided [RCV004694638] Chr21:41744118 [GRCh38]
Chr21:43164278 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_020639.3(RIPK4):c.*748A>G single nucleotide variant Bartsocas-Papas syndrome 1 [RCV000353257] Chr21:41740090 [GRCh38]
Chr21:43160250 [GRCh37]
Chr21:21q22.3		 likely benign
NM_020639.3(RIPK4):c.936+133C>T single nucleotide variant not provided [RCV001546539] Chr21:41745626 [GRCh38]
Chr21:43165786 [GRCh37]
Chr21:21q22.3		 likely benign
NM_020639.3(RIPK4):c.271C>A (p.Pro91Thr) single nucleotide variant Bartsocas-Papas syndrome 1 [RCV000332407] Chr21:41756728 [GRCh38]
Chr21:43176888 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_020639.3(RIPK4):c.*201C>T single nucleotide variant Bartsocas-Papas syndrome 1 [RCV000348012] Chr21:41740637 [GRCh38]
Chr21:43160797 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_020639.3(RIPK4):c.*729C>T single nucleotide variant Bartsocas-Papas syndrome 1 [RCV000318052] Chr21:41740109 [GRCh38]
Chr21:43160269 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_020639.3(RIPK4):c.*142G>A single nucleotide variant Bartsocas-Papas syndrome 1 [RCV000386221] Chr21:41740696 [GRCh38]
Chr21:43160856 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_020639.3(RIPK4):c.*59C>T single nucleotide variant Bartsocas-Papas syndrome 1 [RCV000297451] Chr21:41740779 [GRCh38]
Chr21:43160939 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_020639.3(RIPK4):c.*1039dup duplication Popliteal pterygium syndrome [RCV000311475] Chr21:41739798..41739799 [GRCh38]
Chr21:43159958..43159959 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_020639.3(RIPK4):c.*60G>A single nucleotide variant Bartsocas-Papas syndrome 1 [RCV000394458] Chr21:41740778 [GRCh38]
Chr21:43160938 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_020639.3(RIPK4):c.*1081C>T single nucleotide variant Bartsocas-Papas syndrome 1 [RCV000396332] Chr21:41739757 [GRCh38]
Chr21:43159917 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_020639.3(RIPK4):c.*747T>A single nucleotide variant Bartsocas-Papas syndrome 1 [RCV001139404]|not provided [RCV004717758] Chr21:41740091 [GRCh38]
Chr21:43160251 [GRCh37]
Chr21:21q22.3		 benign
GRCh37/hg19 21q11.2-22.3(chr21:15006457-43598570)x3 copy number gain See cases [RCV000446716] Chr21:15006457..43598570 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
GRCh37/hg19 21q22.13-22.3(chr21:38790552-43619940)x1 copy number loss See cases [RCV000446516] Chr21:38790552..43619940 [GRCh37]
Chr21:21q22.13-22.3		 pathogenic
NM_020639.3(RIPK4):c.488G>A (p.Gly163Asp) single nucleotide variant Bartsocas-Papas syndrome 1 [RCV000680083]|Curly hair, ankyloblepharon, nail dysplasia syndrome [RCV000710014] Chr21:41751232 [GRCh38]
Chr21:43171392 [GRCh37]
Chr21:21q22.3		 pathogenic|uncertain significance
GRCh37/hg19 21q22.2-22.3(chr21:42410406-48097372)x1 copy number loss See cases [RCV000448694] Chr21:42410406..48097372 [GRCh37]
Chr21:21q22.2-22.3		 pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:14771770-48080867)x3 copy number gain See cases [RCV000447884] Chr21:14771770..48080867 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15006457-44827632)x3 copy number gain See cases [RCV000448199] Chr21:15006457..44827632 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15285841-48097372)x3 copy number gain See cases [RCV000447729] Chr21:15285841..48097372 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372)x3 copy number gain See cases [RCV000447749] Chr21:15006457..48097372 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
NM_020639.3(RIPK4):c.265C>T (p.Arg89Cys) single nucleotide variant not specified [RCV000502236] Chr21:41756734 [GRCh38]
Chr21:43176894 [GRCh37]
Chr21:21q22.3		 uncertain significance
GRCh37/hg19 21q22.13-22.3(chr21:38699545-48097372)x1 copy number loss See cases [RCV000510684] Chr21:38699545..48097372 [GRCh37]
Chr21:21q22.13-22.3		 pathogenic
NM_020639.3(RIPK4):c.906C>T (p.Asp302=) single nucleotide variant not specified [RCV000500473] Chr21:41745789 [GRCh38]
Chr21:43165949 [GRCh37]
Chr21:21q22.3		 likely benign
GRCh37/hg19 21q22.2-22.3(chr21:41254101-48097372)x1 copy number loss See cases [RCV000511808] Chr21:41254101..48097372 [GRCh37]
Chr21:21q22.2-22.3		 pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15006458-48097372) copy number gain See cases [RCV000511589] Chr21:15006458..48097372 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
GRCh37/hg19 21q22.3(chr21:42661850-43590844)x3 copy number gain See cases [RCV000511842] Chr21:42661850..43590844 [GRCh37]
Chr21:21q22.3		 uncertain significance
GRCh37/hg19 21q22.13-22.3(chr21:37914123-48097372)x1 copy number loss See cases [RCV000510798] Chr21:37914123..48097372 [GRCh37]
Chr21:21q22.13-22.3		 pathogenic
NM_020639.3(RIPK4):c.1074dup (p.Glu359Ter) duplication Bartsocas-Papas syndrome 1 [RCV000710016] Chr21:41744002..41744003 [GRCh38]
Chr21:43164162..43164163 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_020639.3(RIPK4):c.1213G>A (p.Val405Ile) single nucleotide variant Inborn genetic diseases [RCV003279681] Chr21:41741980 [GRCh38]
Chr21:43162140 [GRCh37]
Chr21:21q22.3		 likely benign
NM_020639.3(RIPK4):c.1846C>T (p.His616Tyr) single nucleotide variant Inborn genetic diseases [RCV003299270] Chr21:41741347 [GRCh38]
Chr21:43161507 [GRCh37]
Chr21:21q22.3		 uncertain significance
GRCh37/hg19 21q22.2-22.3(chr21:42335622-48097372)x1 copy number loss not provided [RCV000684165] Chr21:42335622..48097372 [GRCh37]
Chr21:21q22.2-22.3		 pathogenic
GRCh37/hg19 21q22.3(chr21:42805420-43176065)x3 copy number gain not provided [RCV000684141] Chr21:42805420..43176065 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_020639.3(RIPK4):c.850G>A (p.Glu284Lys) single nucleotide variant Curly hair, ankyloblepharon, nail dysplasia syndrome [RCV000710015] Chr21:41745845 [GRCh38]
Chr21:43166005 [GRCh37]
Chr21:21q22.3		 pathogenic
GRCh37/hg19 21p11.2-q22.3(chr21:10827533-48100155)x3 copy number gain not provided [RCV000741419] Chr21:10827533..48100155 [GRCh37]
Chr21:21p11.2-q22.3		 pathogenic
GRCh37/hg19 21q22.2-22.3(chr21:40364245-44169928)x1 copy number loss not provided [RCV000741567] Chr21:40364245..44169928 [GRCh37]
Chr21:21q22.2-22.3		 pathogenic
GRCh37/hg19 21p11.2-q22.3(chr21:10699330-48117896)x3 copy number gain not provided [RCV000741413] Chr21:10699330..48117896 [GRCh37]
Chr21:21p11.2-q22.3		 pathogenic
GRCh37/hg19 21p11.2-q22.3(chr21:10704198-48117896)x3 copy number gain not provided [RCV000741415] Chr21:10704198..48117896 [GRCh37]
Chr21:21p11.2-q22.3		 pathogenic
GRCh37/hg19 21p11.2-q22.3(chr21:10824040-48090629)x3 copy number gain not provided [RCV000741418] Chr21:10824040..48090629 [GRCh37]
Chr21:21p11.2-q22.3		 pathogenic
NM_020639.3(RIPK4):c.369C>T (p.His123=) single nucleotide variant not provided [RCV000915792] Chr21:41756630 [GRCh38]
Chr21:43176790 [GRCh37]
Chr21:21q22.3		 likely benign
NM_020639.3(RIPK4):c.182+169G>T single nucleotide variant not provided [RCV001611528] Chr21:41766691 [GRCh38]
Chr21:43186851 [GRCh37]
Chr21:21q22.3		 benign
NM_020639.3(RIPK4):c.2352C>T (p.Thr784=) single nucleotide variant not provided [RCV000962761] Chr21:41740841 [GRCh38]
Chr21:43161001 [GRCh37]
Chr21:21q22.3		 benign|likely benign
NM_020639.3(RIPK4):c.673+269C>G single nucleotide variant not provided [RCV001690275] Chr21:41748885 [GRCh38]
Chr21:43169045 [GRCh37]
Chr21:21q22.3		 benign
NM_020639.3(RIPK4):c.2330C>T (p.Thr777Met) single nucleotide variant Inborn genetic diseases [RCV004029398]|RIPK4-related disorder [RCV003958382]|not provided [RCV000916257] Chr21:41740863 [GRCh38]
Chr21:43161023 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_020639.3(RIPK4):c.1196-99T>A single nucleotide variant not provided [RCV001583563] Chr21:41742096 [GRCh38]
Chr21:43162256 [GRCh37]
Chr21:21q22.3		 likely benign
NM_020639.3(RIPK4):c.1198C>G (p.Leu400Val) single nucleotide variant Inborn genetic diseases [RCV002570787]|not provided [RCV001572781] Chr21:41741995 [GRCh38]
Chr21:43162155 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_020639.3(RIPK4):c.936+95A>G single nucleotide variant not provided [RCV001706980] Chr21:41745664 [GRCh38]
Chr21:43165824 [GRCh37]
Chr21:21q22.3		 benign
NM_020639.3(RIPK4):c.1612C>T (p.Arg538Trp) single nucleotide variant Inborn genetic diseases [RCV003246017] Chr21:41741581 [GRCh38]
Chr21:43161741 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_020639.3(RIPK4):c.674-84C>T single nucleotide variant not provided [RCV001576593] Chr21:41746855 [GRCh38]
Chr21:43167015 [GRCh37]
Chr21:21q22.3		 likely benign
NM_020639.3(RIPK4):c.721C>T (p.Arg241Cys) single nucleotide variant not provided [RCV001547442] Chr21:41746724 [GRCh38]
Chr21:43166884 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_020639.3(RIPK4):c.674-124T>C single nucleotide variant not provided [RCV001692845] Chr21:41746895 [GRCh38]
Chr21:43167055 [GRCh37]
Chr21:21q22.3		 benign
NM_020639.3(RIPK4):c.1344C>T (p.Ala448=) single nucleotide variant Bartsocas-Papas syndrome 1 [RCV001137392]|not provided [RCV000925098] Chr21:41741849 [GRCh38]
Chr21:43162009 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_020639.3(RIPK4):c.330G>A (p.Ser110=) single nucleotide variant not provided [RCV000900553] Chr21:41756669 [GRCh38]
Chr21:43176829 [GRCh37]
Chr21:21q22.3		 likely benign
NM_020639.3(RIPK4):c.1137C>T (p.Ser379=) single nucleotide variant Bartsocas-Papas syndrome 1 [RCV001139626]|RIPK4-related disorder [RCV003970503]|not provided [RCV000922961] Chr21:41743940 [GRCh38]
Chr21:43164100 [GRCh37]
Chr21:21q22.3		 benign|likely benign|uncertain significance
NM_020639.3(RIPK4):c.600C>T (p.Phe200=) single nucleotide variant not provided [RCV000891945] Chr21:41751120 [GRCh38]
Chr21:43171280 [GRCh37]
Chr21:21q22.3		 likely benign
NM_020639.3(RIPK4):c.2214G>A (p.Ala738=) single nucleotide variant RIPK4-related disorder [RCV003960865]|not provided [RCV000972978] Chr21:41740979 [GRCh38]
Chr21:43161139 [GRCh37]
Chr21:21q22.3		 benign
NM_020639.3(RIPK4):c.1458C>T (p.Val486=) single nucleotide variant not provided [RCV000905793] Chr21:41741735 [GRCh38]
Chr21:43161895 [GRCh37]
Chr21:21q22.3		 likely benign
NM_020639.3(RIPK4):c.1803G>A (p.Thr601=) single nucleotide variant not provided [RCV000966265] Chr21:41741390 [GRCh38]
Chr21:43161550 [GRCh37]
Chr21:21q22.3		 likely benign
Single allele duplication not provided [RCV000768458] Chr21:43010560..48093051 [GRCh37]
Chr21:21q22.3		 likely pathogenic
NM_020639.3(RIPK4):c.1926C>T (p.His642=) single nucleotide variant not provided [RCV000920701] Chr21:41741267 [GRCh38]
Chr21:43161427 [GRCh37]
Chr21:21q22.3		 likely benign
NM_020639.3(RIPK4):c.2296C>G (p.Leu766Val) single nucleotide variant Bartsocas-Papas syndrome 1 [RCV001139521]|not provided [RCV000932842] Chr21:41740897 [GRCh38]
Chr21:43161057 [GRCh37]
Chr21:21q22.3		 likely benign
NM_020639.3(RIPK4):c.2007C>T (p.Asp669=) single nucleotide variant not provided [RCV000926740] Chr21:41741186 [GRCh38]
Chr21:43161346 [GRCh37]
Chr21:21q22.3		 likely benign
NM_020639.3(RIPK4):c.2187C>T (p.Asp729=) single nucleotide variant not provided [RCV000926895] Chr21:41741006 [GRCh38]
Chr21:43161166 [GRCh37]
Chr21:21q22.3		 likely benign
NM_020639.3(RIPK4):c.2277C>T (p.Ala759=) single nucleotide variant Bartsocas-Papas syndrome 1 [RCV001139522]|not provided [RCV000962762]|not specified [RCV001819043] Chr21:41740916 [GRCh38]
Chr21:43161076 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_020639.3(RIPK4):c.1100G>T (p.Ser367Ile) single nucleotide variant Bartsocas-Papas syndrome 1 [RCV001140384]|not provided [RCV000923319] Chr21:41743977 [GRCh38]
Chr21:43164137 [GRCh37]
Chr21:21q22.3		 likely benign
NM_020639.3(RIPK4):c.1765C>T (p.Leu589=) single nucleotide variant not provided [RCV000927314] Chr21:41741428 [GRCh38]
Chr21:43161588 [GRCh37]
Chr21:21q22.3		 likely benign
NM_020639.3(RIPK4):c.303G>A (p.Thr101=) single nucleotide variant Bartsocas-Papas syndrome 1 [RCV001137506]|Curly hair, ankyloblepharon, nail dysplasia syndrome [RCV002502698]|not provided [RCV000906196] Chr21:41756696 [GRCh38]
Chr21:43176856 [GRCh37]
Chr21:21q22.3		 benign|likely benign
NM_020639.3(RIPK4):c.2070C>T (p.Val690=) single nucleotide variant RIPK4-related disorder [RCV003926211]|not provided [RCV000963531] Chr21:41741123 [GRCh38]
Chr21:43161283 [GRCh37]
Chr21:21q22.3		 benign|likely benign
NM_020639.3(RIPK4):c.252G>A (p.Val84=) single nucleotide variant Bartsocas-Papas syndrome 1 [RCV001139717]|not provided [RCV000910012] Chr21:41756747 [GRCh38]
Chr21:43176907 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_020639.3(RIPK4):c.159G>T (p.Ser53=) single nucleotide variant not provided [RCV000914347] Chr21:41766883 [GRCh38]
Chr21:43187043 [GRCh37]
Chr21:21q22.3		 likely benign
GRCh37/hg19 21q22.2-22.3(chr21:41537095-46914745) copy number loss not provided [RCV000767626] Chr21:41537095..46914745 [GRCh37]
Chr21:21q22.2-22.3		 pathogenic
NM_020639.3(RIPK4):c.2114C>T (p.Thr705Met) single nucleotide variant Inborn genetic diseases [RCV003247501] Chr21:41741079 [GRCh38]
Chr21:43161239 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_020639.3(RIPK4):c.*1172T>C single nucleotide variant Bartsocas-Papas syndrome 1 [RCV001137162] Chr21:41739666 [GRCh38]
Chr21:43159826 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_020639.3(RIPK4):c.377C>T (p.Ala126Val) single nucleotide variant Bartsocas-Papas syndrome 1 [RCV001137505]|Inborn genetic diseases [RCV002556929] Chr21:41756622 [GRCh38]
Chr21:43176782 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_020639.3(RIPK4):c.1453G>A (p.Gly485Ser) single nucleotide variant Bartsocas-Papas syndrome 1 [RCV001137391] Chr21:41741740 [GRCh38]
Chr21:43161900 [GRCh37]
Chr21:21q22.3		 uncertain significance
Single allele deletion Neurodevelopmental disorder [RCV000787405] Chr21:42300424..43682911 [GRCh37]
Chr21:21q22.2-22.3		 uncertain significance
NM_020639.3(RIPK4):c.*824C>T single nucleotide variant Bartsocas-Papas syndrome 1 [RCV001139402] Chr21:41740014 [GRCh38]
Chr21:43160174 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_020639.3(RIPK4):c.*1025G>T single nucleotide variant Bartsocas-Papas syndrome 1 [RCV001137165]|not provided [RCV004717757] Chr21:41739813 [GRCh38]
Chr21:43159973 [GRCh37]
Chr21:21q22.3		 benign
GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372)x3 copy number gain not provided [RCV000846937] Chr21:15006457..48097372 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
NM_020639.3(RIPK4):c.2194G>A (p.Asp732Asn) single nucleotide variant Inborn genetic diseases [RCV003249278] Chr21:41740999 [GRCh38]
Chr21:43161159 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_020639.3(RIPK4):c.1995C>T (p.Ala665=) single nucleotide variant Bartsocas-Papas syndrome 1 [RCV001140288] Chr21:41741198 [GRCh38]
Chr21:43161358 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_020639.3(RIPK4):c.*1192A>G single nucleotide variant Bartsocas-Papas syndrome 1 [RCV001143719] Chr21:41739646 [GRCh38]
Chr21:43159806 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_020639.3(RIPK4):c.*1151G>A single nucleotide variant Bartsocas-Papas syndrome 1 [RCV001137163] Chr21:41739687 [GRCh38]
Chr21:43159847 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_020639.3(RIPK4):c.*550C>G single nucleotide variant Bartsocas-Papas syndrome 1 [RCV001142026] Chr21:41740288 [GRCh38]
Chr21:43160448 [GRCh37]
Chr21:21q22.3		 benign
NM_020639.3(RIPK4):c.504C>T (p.Asn168=) single nucleotide variant Bartsocas-Papas syndrome 1 [RCV001142248] Chr21:41751216 [GRCh38]
Chr21:43171376 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_020639.3(RIPK4):c.29C>T (p.Ala10Val) single nucleotide variant Inborn genetic diseases [RCV003249945] Chr21:41767013 [GRCh38]
Chr21:43187173 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_020639.3(RIPK4):c.512C>T (p.Ser171Phe) single nucleotide variant Inborn genetic diseases [RCV003292637] Chr21:41751208 [GRCh38]
Chr21:43171368 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_020639.3(RIPK4):c.722G>A (p.Arg241His) single nucleotide variant Bartsocas-Papas syndrome 1 [RCV001706914] Chr21:41746723 [GRCh38]
Chr21:43166883 [GRCh37]
Chr21:21q22.3		 likely pathogenic
NM_020639.3(RIPK4):c.475-225C>T single nucleotide variant not provided [RCV001534501] Chr21:41751470 [GRCh38]
Chr21:43171630 [GRCh37]
Chr21:21q22.3		 benign
NM_020639.3(RIPK4):c.832+214C>T single nucleotide variant not provided [RCV001561813] Chr21:41746399 [GRCh38]
Chr21:43166559 [GRCh37]
Chr21:21q22.3		 likely benign
NM_020639.3(RIPK4):c.1196-199C>T single nucleotide variant not provided [RCV001654457] Chr21:41742196 [GRCh38]
Chr21:43162356 [GRCh37]
Chr21:21q22.3		 benign
NM_020639.3(RIPK4):c.1196-253C>T single nucleotide variant not provided [RCV001551385] Chr21:41742250 [GRCh38]
Chr21:43162410 [GRCh37]
Chr21:21q22.3		 likely benign
NC_000021.9:g.41767408del deletion not provided [RCV001544701] Chr21:41767399 [GRCh38]
Chr21:43187559 [GRCh37]
Chr21:21q22.3		 likely benign
NC_000021.9:g.41767122C>G single nucleotide variant not provided [RCV001552271] Chr21:41767122 [GRCh38]
Chr21:43187282 [GRCh37]
Chr21:21q22.3		 likely benign
NM_020639.3(RIPK4):c.832+178dup duplication not provided [RCV001552422] Chr21:41746434..41746435 [GRCh38]
Chr21:43166594..43166595 [GRCh37]
Chr21:21q22.3		 likely benign
NM_020639.3(RIPK4):c.310C>T (p.Leu104=) single nucleotide variant not provided [RCV000929483] Chr21:41756689 [GRCh38]
Chr21:43176849 [GRCh37]
Chr21:21q22.3		 likely benign
NM_020639.3(RIPK4):c.117G>A (p.Val39=) single nucleotide variant Bartsocas-Papas syndrome 1 [RCV001139718]|not provided [RCV001564790] Chr21:41766925 [GRCh38]
Chr21:43187085 [GRCh37]
Chr21:21q22.3		 benign|likely benign
NM_020639.3(RIPK4):c.*637G>A single nucleotide variant Bartsocas-Papas syndrome 1 [RCV001142025] Chr21:41740201 [GRCh38]
Chr21:43160361 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_020639.3(RIPK4):c.1862G>A (p.Arg621His) single nucleotide variant Bartsocas-Papas syndrome 1 [RCV001142123] Chr21:41741331 [GRCh38]
Chr21:43161491 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_020639.3(RIPK4):c.*215G>C single nucleotide variant Bartsocas-Papas syndrome 1 [RCV001143834] Chr21:41740623 [GRCh38]
Chr21:43160783 [GRCh37]
Chr21:21q22.3		 benign
NM_020639.3(RIPK4):c.1119G>T (p.Gly373=) single nucleotide variant Bartsocas-Papas syndrome 1 [RCV001139627]|not provided [RCV000891258] Chr21:41743958 [GRCh38]
Chr21:43164118 [GRCh37]
Chr21:21q22.3		 benign|likely benign
NM_020639.3(RIPK4):c.832+2T>C single nucleotide variant Bartsocas-Papas syndrome 1 [RCV001142245]|not provided [RCV000889410] Chr21:41746611 [GRCh38]
Chr21:43166771 [GRCh37]
Chr21:21q22.3		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_020639.3(RIPK4):c.1491C>G (p.Val497=) single nucleotide variant not provided [RCV000913965] Chr21:41741702 [GRCh38]
Chr21:43161862 [GRCh37]
Chr21:21q22.3		 likely benign
NM_020639.3(RIPK4):c.2323G>A (p.Ala775Thr) single nucleotide variant Bartsocas-Papas syndrome 1 [RCV001139520]|Inborn genetic diseases [RCV004029347]|RIPK4-related disorder [RCV004753110]|not provided [RCV000911971] Chr21:41740870 [GRCh38]
Chr21:43161030 [GRCh37]
Chr21:21q22.3		 benign|likely benign
NM_020639.3(RIPK4):c.1329C>T (p.His443=) single nucleotide variant not provided [RCV000912370] Chr21:41741864 [GRCh38]
Chr21:43162024 [GRCh37]
Chr21:21q22.3		 likely benign
NM_020639.3(RIPK4):c.183-148G>A single nucleotide variant not provided [RCV001656763] Chr21:41756964 [GRCh38]
Chr21:43177124 [GRCh37]
Chr21:21q22.3		 benign
NM_020639.3(RIPK4):c.1196-117C>T single nucleotide variant not provided [RCV001557209] Chr21:41742114 [GRCh38]
Chr21:43162274 [GRCh37]
Chr21:21q22.3		 likely benign
NM_020639.3(RIPK4):c.936+85C>T single nucleotide variant not provided [RCV001569246] Chr21:41745674 [GRCh38]
Chr21:43165834 [GRCh37]
Chr21:21q22.3		 likely benign
NC_000021.9:g.41767119G>A single nucleotide variant not provided [RCV001687885] Chr21:41767119 [GRCh38]
Chr21:43187279 [GRCh37]
Chr21:21q22.3		 benign
NM_020639.3(RIPK4):c.182+264_182+274del microsatellite not provided [RCV001539060] Chr21:41766586..41766596 [GRCh38]
Chr21:43186746..43186756 [GRCh37]
Chr21:21q22.3		 benign
NM_020639.3(RIPK4):c.182+160T>G single nucleotide variant not provided [RCV001617121] Chr21:41766700 [GRCh38]
Chr21:43186860 [GRCh37]
Chr21:21q22.3		 benign
NM_020639.3(RIPK4):c.936+276G>A single nucleotide variant not provided [RCV001639364] Chr21:41745483 [GRCh38]
Chr21:43165643 [GRCh37]
Chr21:21q22.3		 benign
NM_020639.3(RIPK4):c.833-194A>G single nucleotide variant not provided [RCV001581382] Chr21:41746056 [GRCh38]
Chr21:43166216 [GRCh37]
Chr21:21q22.3		 likely benign
NM_020639.3(RIPK4):c.1196-43A>G single nucleotide variant Bartsocas-Papas syndrome 1 [RCV001796674]|not provided [RCV001674206] Chr21:41742040 [GRCh38]
Chr21:43162200 [GRCh37]
Chr21:21q22.3		 benign
NM_020639.3(RIPK4):c.*1447A>C single nucleotide variant Bartsocas-Papas syndrome 1 [RCV001141913] Chr21:41739391 [GRCh38]
Chr21:43159551 [GRCh37]
Chr21:21q22.3		 uncertain significance
GRCh37/hg19 21q22.2-22.3(chr21:42044877-48100155)x3 copy number gain See cases [RCV001007433] Chr21:42044877..48100155 [GRCh37]
Chr21:21q22.2-22.3		 pathogenic
NM_020639.3(RIPK4):c.*1376C>T single nucleotide variant Bartsocas-Papas syndrome 1 [RCV001143716] Chr21:41739462 [GRCh38]
Chr21:43159622 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_020639.3(RIPK4):c.*1203A>T single nucleotide variant Bartsocas-Papas syndrome 1 [RCV001143718] Chr21:41739635 [GRCh38]
Chr21:43159795 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_020639.3(RIPK4):c.*273A>C single nucleotide variant Bartsocas-Papas syndrome 1 [RCV001143833] Chr21:41740565 [GRCh38]
Chr21:43160725 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_020639.3(RIPK4):c.*173C>T single nucleotide variant Bartsocas-Papas syndrome 1 [RCV001143836] Chr21:41740665 [GRCh38]
Chr21:43160825 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_020639.3(RIPK4):c.*72C>T single nucleotide variant Bartsocas-Papas syndrome 1 [RCV001137272] Chr21:41740766 [GRCh38]
Chr21:43160926 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_020639.3(RIPK4):c.1681G>A (p.Val561Met) single nucleotide variant Bartsocas-Papas syndrome 1 [RCV001007777]|not provided [RCV004693438] Chr21:41741512 [GRCh38]
Chr21:43161672 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_020639.3(RIPK4):c.1477C>T (p.Arg493Trp) single nucleotide variant Bartsocas-Papas syndrome 1 [RCV001137390] Chr21:41741716 [GRCh38]
Chr21:43161876 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_020639.3(RIPK4):c.1195+8G>C single nucleotide variant Bartsocas-Papas syndrome 1 [RCV001139625] Chr21:41743874 [GRCh38]
Chr21:43164034 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_020639.3(RIPK4):c.2041G>A (p.Gly681Arg) single nucleotide variant Bartsocas-Papas syndrome 1 [RCV001140286] Chr21:41741152 [GRCh38]
Chr21:43161312 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_020639.3(RIPK4):c.59G>A (p.Gly20Asp) single nucleotide variant Bartsocas-Papas syndrome 1 [RCV001139719] Chr21:41766983 [GRCh38]
Chr21:43187143 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_020639.3(RIPK4):c.812G>A (p.Arg271Gln) single nucleotide variant Bartsocas-Papas syndrome 1 [RCV001142246]|Inborn genetic diseases [RCV004032719] Chr21:41746633 [GRCh38]
Chr21:43166793 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_020639.3(RIPK4):c.*701A>G single nucleotide variant Bartsocas-Papas syndrome 1 [RCV001142024] Chr21:41740137 [GRCh38]
Chr21:43160297 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_020639.3(RIPK4):c.*416C>T single nucleotide variant Bartsocas-Papas syndrome 1 [RCV001142027] Chr21:41740422 [GRCh38]
Chr21:43160582 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_020639.3(RIPK4):c.623+139C>T single nucleotide variant not provided [RCV001586336] Chr21:41750958 [GRCh38]
Chr21:43171118 [GRCh37]
Chr21:21q22.3		 likely benign
NC_000021.9:g.41767238A>C single nucleotide variant not provided [RCV001680226] Chr21:41767238 [GRCh38]
Chr21:43187398 [GRCh37]
Chr21:21q22.3		 benign
NM_020639.3(RIPK4):c.937-45T>G single nucleotide variant Bartsocas-Papas syndrome 1 [RCV001796696]|not provided [RCV001680398] Chr21:41744185 [GRCh38]
Chr21:43164345 [GRCh37]
Chr21:21q22.3		 benign
NM_020639.3(RIPK4):c.674-135T>G single nucleotide variant not provided [RCV001565706] Chr21:41746906 [GRCh38]
Chr21:43167066 [GRCh37]
Chr21:21q22.3		 likely benign
NM_020639.3(RIPK4):c.937-19C>T single nucleotide variant not provided [RCV001693820] Chr21:41744159 [GRCh38]
Chr21:43164319 [GRCh37]
Chr21:21q22.3		 benign
GRCh37/hg19 21q22.13-22.3(chr21:39410438-45171756)x1 copy number loss not provided [RCV001007132] Chr21:39410438..45171756 [GRCh37]
Chr21:21q22.13-22.3		 pathogenic
NM_020639.3(RIPK4):c.*823A>G single nucleotide variant Bartsocas-Papas syndrome 1 [RCV001139403] Chr21:41740015 [GRCh38]
Chr21:43160175 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_020639.3(RIPK4):c.*1117T>C single nucleotide variant Bartsocas-Papas syndrome 1 [RCV001137164] Chr21:41739721 [GRCh38]
Chr21:43159881 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_020639.3(RIPK4):c.*298A>G single nucleotide variant Bartsocas-Papas syndrome 1 [RCV001142028] Chr21:41740540 [GRCh38]
Chr21:43160700 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_020639.3(RIPK4):c.474+14C>T single nucleotide variant Bartsocas-Papas syndrome 1 [RCV001137504] Chr21:41756511 [GRCh38]
Chr21:43176671 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_020639.3(RIPK4):c.277G>A (p.Gly93Ser) single nucleotide variant Bartsocas-Papas syndrome 1 [RCV001137507]|Inborn genetic diseases [RCV002558304] Chr21:41756722 [GRCh38]
Chr21:43176882 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_020639.3(RIPK4):c.*204G>A single nucleotide variant Bartsocas-Papas syndrome 1 [RCV001143835] Chr21:41740634 [GRCh38]
Chr21:43160794 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_020639.3(RIPK4):c.1079C>T (p.Ser360Phe) single nucleotide variant Bartsocas-Papas syndrome 1 [RCV001140385] Chr21:41743998 [GRCh38]
Chr21:43164158 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_020639.3(RIPK4):c.1039G>A (p.Val347Ile) single nucleotide variant Bartsocas-Papas syndrome 1 [RCV001140386]|Inborn genetic diseases [RCV002559359]|RIPK4-related disorder [RCV003906256]|not provided [RCV004694870] Chr21:41744038 [GRCh38]
Chr21:43164198 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_020639.3(RIPK4):c.755C>T (p.Pro252Leu) single nucleotide variant Bartsocas-Papas syndrome 1 [RCV001142247] Chr21:41746690 [GRCh38]
Chr21:43166850 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_020639.3(RIPK4):c.2001C>G (p.Thr667=) single nucleotide variant Bartsocas-Papas syndrome 1 [RCV001140287] Chr21:41741192 [GRCh38]
Chr21:43161352 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_020639.3(RIPK4):c.*961G>A single nucleotide variant Bartsocas-Papas syndrome 1 [RCV001137166] Chr21:41739877 [GRCh38]
Chr21:43160037 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_020639.3(RIPK4):c.*161G>A single nucleotide variant Bartsocas-Papas syndrome 1 [RCV001137271] Chr21:41740677 [GRCh38]
Chr21:43160837 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_020639.3(RIPK4):c.1779G>A (p.Pro593=) single nucleotide variant Bartsocas-Papas syndrome 1 [RCV001142124] Chr21:41741414 [GRCh38]
Chr21:43161574 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_020639.3(RIPK4):c.1694T>G (p.Leu565Arg) single nucleotide variant Bartsocas-Papas syndrome 1 [RCV001142125] Chr21:41741499 [GRCh38]
Chr21:43161659 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_020639.3(RIPK4):c.1561C>T (p.Arg521Trp) single nucleotide variant Bartsocas-Papas syndrome 1 [RCV001142126] Chr21:41741632 [GRCh38]
Chr21:43161792 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_020639.3(RIPK4):c.1106A>G (p.Lys369Arg) single nucleotide variant Bartsocas-Papas syndrome 1 [RCV001140383] Chr21:41743971 [GRCh38]
Chr21:43164131 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_020639.3(RIPK4):c.899A>T (p.Asp300Val) single nucleotide variant Bartsocas-Papas syndrome 1 [RCV001140387] Chr21:41745796 [GRCh38]
Chr21:43165956 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_020639.3(RIPK4):c.*1420T>G single nucleotide variant Bartsocas-Papas syndrome 1 [RCV001143715] Chr21:41739418 [GRCh38]
Chr21:43159578 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_020639.3(RIPK4):c.*1206A>G single nucleotide variant Bartsocas-Papas syndrome 1 [RCV001143717] Chr21:41739632 [GRCh38]
Chr21:43159792 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_020639.3(RIPK4):c.936+241A>G single nucleotide variant not provided [RCV001565146] Chr21:41745518 [GRCh38]
Chr21:43165678 [GRCh37]
Chr21:21q22.3		 likely benign
GRCh37/hg19 21q11.2-22.3(chr21:14629063-48090317)x3 copy number gain See cases [RCV001263025] Chr21:14629063..48090317 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:14420615-48080926)x3 copy number gain Down syndrome [RCV002284306] Chr21:14420615..48080926 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
NM_020639.3(RIPK4):c.*13G>T single nucleotide variant not provided [RCV001581469] Chr21:41740825 [GRCh38]
Chr21:43160985 [GRCh37]
Chr21:21q22.3		 likely benign
NM_020639.3(RIPK4):c.1511A>G (p.Gln504Arg) single nucleotide variant Bartsocas-Papas syndrome 1 [RCV001335981] Chr21:41741682 [GRCh38]
Chr21:43161842 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_020639.3(RIPK4):c.2071G>T (p.Glu691Ter) single nucleotide variant Bartsocas-Papas syndrome [RCV001335982] Chr21:41741122 [GRCh38]
Chr21:43161282 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_020639.3(RIPK4):c.833-319C>T single nucleotide variant not provided [RCV001535267] Chr21:41746181 [GRCh38]
Chr21:43166341 [GRCh37]
Chr21:21q22.3		 benign
NM_020639.3(RIPK4):c.937-250C>T single nucleotide variant not provided [RCV001686955] Chr21:41744390 [GRCh38]
Chr21:43164550 [GRCh37]
Chr21:21q22.3		 benign
NM_020639.3(RIPK4):c.1196-177C>T single nucleotide variant not provided [RCV001680210] Chr21:41742174 [GRCh38]
Chr21:43162334 [GRCh37]
Chr21:21q22.3		 benign
NM_020639.3(RIPK4):c.832+147A>C single nucleotide variant not provided [RCV001647777] Chr21:41746466 [GRCh38]
Chr21:43166626 [GRCh37]
Chr21:21q22.3		 benign
NM_020639.3(RIPK4):c.121del (p.His41fs) deletion not provided [RCV001783683] Chr21:41766921 [GRCh38]
Chr21:43187081 [GRCh37]
Chr21:21q22.3		 likely pathogenic
NM_020639.3(RIPK4):c.2332C>T (p.Leu778Phe) single nucleotide variant not provided [RCV001774243] Chr21:41740861 [GRCh38]
Chr21:43161021 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_020639.3(RIPK4):c.1417A>G (p.Thr473Ala) single nucleotide variant not provided [RCV001767754]|not specified [RCV001821985] Chr21:41741776 [GRCh38]
Chr21:43161936 [GRCh37]
Chr21:21q22.3		 uncertain significance
GRCh37/hg19 21p13-q22.3(chr21:1-48129895)x3 copy number gain See cases [RCV001780078] Chr21:1..48129895 [GRCh37]
Chr21:21p13-q22.3		 pathogenic
NM_020639.3(RIPK4):c.2318G>T (p.Gly773Val) single nucleotide variant not provided [RCV001733275] Chr21:41740875 [GRCh38]
Chr21:43161035 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_020639.3(RIPK4):c.1049C>T (p.Pro350Leu) single nucleotide variant not provided [RCV001732784] Chr21:41744028 [GRCh38]
Chr21:43164188 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_020639.3(RIPK4):c.739G>A (p.Val247Met) single nucleotide variant Inborn genetic diseases [RCV002540414]|not provided [RCV001758690] Chr21:41746706 [GRCh38]
Chr21:43166866 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_020639.3(RIPK4):c.2211C>T (p.Ser737=) single nucleotide variant not specified [RCV001817195] Chr21:41740982 [GRCh38]
Chr21:43161142 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_020639.3(RIPK4):c.183-94C>G single nucleotide variant not provided [RCV001733015] Chr21:41756910 [GRCh38]
Chr21:43177070 [GRCh37]
Chr21:21q22.3		 likely benign
GRCh37/hg19 21q11.2-22.3(chr21:15285841-48097372) copy number gain not specified [RCV002052725] Chr21:15285841..48097372 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
GRCh37/hg19 21q22.2-22.3(chr21:42410406-48097372) copy number loss not specified [RCV002052739] Chr21:42410406..48097372 [GRCh37]
Chr21:21q22.2-22.3		 pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372)x3 copy number gain not provided [RCV001829203] Chr21:15006457..48097372 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
GRCh37/hg19 21q22.3(chr21:42679089-48097372) copy number loss Delayed speech and language development [RCV002280704] Chr21:42679089..48097372 [GRCh37]
Chr21:21q22.3		 pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372) copy number gain not specified [RCV002052723] Chr21:15006457..48097372 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15041209-48097372) copy number gain not specified [RCV002052724] Chr21:15041209..48097372 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
NC_000021.8:g.(?_43160998)_(47865240_?)dup duplication Cataract 9 multiple types [RCV001913783]|Developmental and epileptic encephalopathy, 30 [RCV003120744]|Primary ciliary dyskinesia [RCV001913782] Chr21:43160998..47865240 [GRCh37]
Chr21:21q22.3		 uncertain significance
NC_000021.8:g.(?_43160998)_(47865240_?)del deletion HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED [RCV001956307] Chr21:43160998..47865240 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_020639.3(RIPK4):c.623+34T>G single nucleotide variant not provided [RCV002210996] Chr21:41751063 [GRCh38]
Chr21:43171223 [GRCh37]
Chr21:21q22.3		 likely benign
NC_000021.8:g.(?_43160998)_(47754702_?)del deletion Developmental and epileptic encephalopathy, 30 [RCV003119312]|Progressive myoclonic epilepsy [RCV003119311] Chr21:43160998..47754702 [GRCh37]
Chr21:21q22.3		 pathogenic|uncertain significance
GRCh37/hg19 21q22.2-22.3(chr21:42046399-45109188)x1 copy number loss not provided [RCV002472503] Chr21:42046399..45109188 [GRCh37]
Chr21:21q22.2-22.3		 pathogenic
NM_020639.3(RIPK4):c.467A>C (p.His156Pro) single nucleotide variant Bartsocas-Papas syndrome 1 [RCV003234945] Chr21:41756532 [GRCh38]
Chr21:43176692 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_020639.3(RIPK4):c.127C>T (p.His43Tyr) single nucleotide variant Inborn genetic diseases [RCV002777959] Chr21:41766915 [GRCh38]
Chr21:43187075 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_020639.3(RIPK4):c.760G>A (p.Ala254Thr) single nucleotide variant Inborn genetic diseases [RCV002779921] Chr21:41746685 [GRCh38]
Chr21:43166845 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_020639.3(RIPK4):c.1655T>C (p.Ile552Thr) single nucleotide variant Inborn genetic diseases [RCV002841787] Chr21:41741538 [GRCh38]
Chr21:43161698 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_020639.3(RIPK4):c.2294G>A (p.Ser765Asn) single nucleotide variant Inborn genetic diseases [RCV002864951] Chr21:41740899 [GRCh38]
Chr21:43161059 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_020639.3(RIPK4):c.1687G>A (p.Val563Met) single nucleotide variant Inborn genetic diseases [RCV002707002] Chr21:41741506 [GRCh38]
Chr21:43161666 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_020639.3(RIPK4):c.989A>G (p.Tyr330Cys) single nucleotide variant Inborn genetic diseases [RCV002889095] Chr21:41744088 [GRCh38]
Chr21:43164248 [GRCh37]
Chr21:21q22.3		 likely benign
NM_020639.3(RIPK4):c.589A>G (p.Ser197Gly) single nucleotide variant Inborn genetic diseases [RCV002844839] Chr21:41751131 [GRCh38]
Chr21:43171291 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_020639.3(RIPK4):c.915C>G (p.Ser305Arg) single nucleotide variant Inborn genetic diseases [RCV002782902] Chr21:41745780 [GRCh38]
Chr21:43165940 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_020639.3(RIPK4):c.979G>T (p.Asp327Tyr) single nucleotide variant Inborn genetic diseases [RCV002701917] Chr21:41744098 [GRCh38]
Chr21:43164258 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_020639.3(RIPK4):c.979G>A (p.Asp327Asn) single nucleotide variant Inborn genetic diseases [RCV002929756] Chr21:41744098 [GRCh38]
Chr21:43164258 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_020639.3(RIPK4):c.1672C>T (p.Arg558Cys) single nucleotide variant Inborn genetic diseases [RCV002917037] Chr21:41741521 [GRCh38]
Chr21:43161681 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_020639.3(RIPK4):c.353G>A (p.Arg118Gln) single nucleotide variant Inborn genetic diseases [RCV002743355] Chr21:41756646 [GRCh38]
Chr21:43176806 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_020639.3(RIPK4):c.2134G>A (p.Ala712Thr) single nucleotide variant Inborn genetic diseases [RCV002787155] Chr21:41741059 [GRCh38]
Chr21:43161219 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_020639.3(RIPK4):c.758G>A (p.Arg253His) single nucleotide variant Inborn genetic diseases [RCV002664966] Chr21:41746687 [GRCh38]
Chr21:43166847 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_020639.3(RIPK4):c.579C>G (p.Ile193Met) single nucleotide variant Inborn genetic diseases [RCV002674625] Chr21:41751141 [GRCh38]
Chr21:43171301 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_020639.3(RIPK4):c.1729G>A (p.Ala577Thr) single nucleotide variant Inborn genetic diseases [RCV002769763] Chr21:41741464 [GRCh38]
Chr21:43161624 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_020639.3(RIPK4):c.1540A>T (p.Asn514Tyr) single nucleotide variant Inborn genetic diseases [RCV002652925] Chr21:41741653 [GRCh38]
Chr21:43161813 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_020639.3(RIPK4):c.188G>A (p.Arg63His) single nucleotide variant Inborn genetic diseases [RCV003209161] Chr21:41756811 [GRCh38]
Chr21:43176971 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_020639.3(RIPK4):c.2242G>A (p.Ala748Thr) single nucleotide variant Inborn genetic diseases [RCV003219223] Chr21:41740951 [GRCh38]
Chr21:43161111 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_020639.3(RIPK4):c.778C>T (p.Arg260Cys) single nucleotide variant Inborn genetic diseases [RCV003199204] Chr21:41746667 [GRCh38]
Chr21:43166827 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_020639.3(RIPK4):c.415C>G (p.Leu139Val) single nucleotide variant Inborn genetic diseases [RCV003196671] Chr21:41756584 [GRCh38]
Chr21:43176744 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_020639.3(RIPK4):c.224T>A (p.Met75Lys) single nucleotide variant Inborn genetic diseases [RCV003287994] Chr21:41756775 [GRCh38]
Chr21:43176935 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_020639.3(RIPK4):c.1756G>A (p.Val586Ile) single nucleotide variant Inborn genetic diseases [RCV004334086]|not provided [RCV003325717] Chr21:41741437 [GRCh38]
Chr21:43161597 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_020639.3(RIPK4):c.2312G>T (p.Gly771Val) single nucleotide variant Inborn genetic diseases [RCV003363402] Chr21:41740881 [GRCh38]
Chr21:43161041 [GRCh37]
Chr21:21q22.3		 uncertain significance
GRCh37/hg19 21q22.2-22.3(chr21:40681179-48097372)x1 copy number loss not provided [RCV003483381] Chr21:40681179..48097372 [GRCh37]
Chr21:21q22.2-22.3		 pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15006458-45674637)x3 copy number gain not provided [RCV003485218] Chr21:15006458..45674637 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
GRCh37/hg19 21q22.11-22.3(chr21:33015681-48097372)x3 copy number gain not provided [RCV003485222] Chr21:33015681..48097372 [GRCh37]
Chr21:21q22.11-22.3		 pathogenic
NM_020639.3(RIPK4):c.1593C>T (p.Asn531=) single nucleotide variant not provided [RCV003440571] Chr21:41741600 [GRCh38]
Chr21:43161760 [GRCh37]
Chr21:21q22.3		 likely benign
NM_020639.3(RIPK4):c.974C>T (p.Thr325Ile) single nucleotide variant not provided [RCV003440572] Chr21:41744103 [GRCh38]
Chr21:43164263 [GRCh37]
Chr21:21q22.3		 likely benign
NM_020639.3(RIPK4):c.814G>C (p.Val272Leu) single nucleotide variant RIPK4-related disorder [RCV003402104] Chr21:41746631 [GRCh38]
Chr21:43166791 [GRCh37]
Chr21:21q22.3		 uncertain significance
GRCh37/hg19 21q22.12-22.3(chr21:35872675-48097372)x1 copy number loss not specified [RCV003986157] Chr21:35872675..48097372 [GRCh37]
Chr21:21q22.12-22.3		 pathogenic
GRCh37/hg19 21q21.3-22.3(chr21:30685776-48097372)x3 copy number gain not specified [RCV003986149] Chr21:30685776..48097372 [GRCh37]
Chr21:21q21.3-22.3		 pathogenic
GRCh37/hg19 21q22.11-22.3(chr21:34092685-48097372)x3 copy number gain not specified [RCV003986158] Chr21:34092685..48097372 [GRCh37]
Chr21:21q22.11-22.3		 pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15023401-48097372)x3 copy number gain not specified [RCV003986160] Chr21:15023401..48097372 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
GRCh37/hg19 21q21.3-22.3(chr21:26929299-48097372)x3 copy number gain not specified [RCV003986152] Chr21:26929299..48097372 [GRCh37]
Chr21:21q21.3-22.3		 pathogenic
NM_020639.3(RIPK4):c.2307G>A (p.Gln769=) single nucleotide variant RIPK4-related disorder [RCV003906941] Chr21:41740886 [GRCh38]
Chr21:43161046 [GRCh37]
Chr21:21q22.3		 likely benign
NM_020639.3(RIPK4):c.1833C>G (p.Ala611=) single nucleotide variant RIPK4-related disorder [RCV003901603] Chr21:41741360 [GRCh38]
Chr21:43161520 [GRCh37]
Chr21:21q22.3		 likely benign
NM_020639.3(RIPK4):c.1242C>T (p.Ile414=) single nucleotide variant RIPK4-related disorder [RCV003956994] Chr21:41741951 [GRCh38]
Chr21:43162111 [GRCh37]
Chr21:21q22.3		 likely benign
NM_020639.3(RIPK4):c.2339G>A (p.Arg780Gln) single nucleotide variant RIPK4-related disorder [RCV003961397] Chr21:41740854 [GRCh38]
Chr21:43161014 [GRCh37]
Chr21:21q22.3		 likely benign
NM_020639.3(RIPK4):c.1641C>T (p.His547=) single nucleotide variant RIPK4-related disorder [RCV003963953] Chr21:41741552 [GRCh38]
Chr21:43161712 [GRCh37]
Chr21:21q22.3		 likely benign
NM_020639.3(RIPK4):c.849C>T (p.Thr283=) single nucleotide variant RIPK4-related disorder [RCV003957238] Chr21:41745846 [GRCh38]
Chr21:43166006 [GRCh37]
Chr21:21q22.3		 likely benign
NM_020639.3(RIPK4):c.2016C>T (p.Thr672=) single nucleotide variant RIPK4-related disorder [RCV003937273] Chr21:41741177 [GRCh38]
Chr21:43161337 [GRCh37]
Chr21:21q22.3		 likely benign
NM_020639.3(RIPK4):c.1842C>T (p.Arg614=) single nucleotide variant RIPK4-related disorder [RCV003896958] Chr21:41741351 [GRCh38]
Chr21:43161511 [GRCh37]
Chr21:21q22.3		 likely benign
NM_020639.3(RIPK4):c.1569G>A (p.Leu523=) single nucleotide variant RIPK4-related disorder [RCV003943951] Chr21:41741624 [GRCh38]
Chr21:43161784 [GRCh37]
Chr21:21q22.3		 likely benign
NM_020639.3(RIPK4):c.1011A>G (p.Ser337=) single nucleotide variant RIPK4-related disorder [RCV003894597] Chr21:41744066 [GRCh38]
Chr21:43164226 [GRCh37]
Chr21:21q22.3		 likely benign
NM_020639.3(RIPK4):c.1833C>T (p.Ala611=) single nucleotide variant RIPK4-related disorder [RCV003917213] Chr21:41741360 [GRCh38]
Chr21:43161520 [GRCh37]
Chr21:21q22.3		 likely benign
NM_020639.3(RIPK4):c.1000G>A (p.Glu334Lys) single nucleotide variant Inborn genetic diseases [RCV004453893] Chr21:41744077 [GRCh38]
Chr21:43164237 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_020639.3(RIPK4):c.1676G>A (p.Arg559Gln) single nucleotide variant Inborn genetic diseases [RCV004453898] Chr21:41741517 [GRCh38]
Chr21:43161677 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_020639.3(RIPK4):c.1756G>T (p.Val586Phe) single nucleotide variant Inborn genetic diseases [RCV004453899] Chr21:41741437 [GRCh38]
Chr21:43161597 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_020639.3(RIPK4):c.379G>T (p.Val127Leu) single nucleotide variant Inborn genetic diseases [RCV004453904] Chr21:41756620 [GRCh38]
Chr21:43176780 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_020639.3(RIPK4):c.778C>A (p.Arg260Ser) single nucleotide variant Inborn genetic diseases [RCV004453906] Chr21:41746667 [GRCh38]
Chr21:43166827 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_020639.3(RIPK4):c.1189A>G (p.Thr397Ala) single nucleotide variant Inborn genetic diseases [RCV004453894] Chr21:41743888 [GRCh38]
Chr21:43164048 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_020639.3(RIPK4):c.1673G>A (p.Arg558His) single nucleotide variant Inborn genetic diseases [RCV004453897] Chr21:41741520 [GRCh38]
Chr21:43161680 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_020639.3(RIPK4):c.1841G>A (p.Arg614His) single nucleotide variant Inborn genetic diseases [RCV004453901] Chr21:41741352 [GRCh38]
Chr21:43161512 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_020639.3(RIPK4):c.1777C>T (p.Pro593Ser) single nucleotide variant Inborn genetic diseases [RCV004453900] Chr21:41741416 [GRCh38]
Chr21:43161576 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_020639.3(RIPK4):c.2126T>C (p.Leu709Pro) single nucleotide variant Inborn genetic diseases [RCV004453903] Chr21:41741067 [GRCh38]
Chr21:43161227 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_020639.3(RIPK4):c.387G>C (p.Met129Ile) single nucleotide variant Inborn genetic diseases [RCV004453905] Chr21:41756612 [GRCh38]
Chr21:43176772 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_020639.3(RIPK4):c.188G>T (p.Arg63Leu) single nucleotide variant Inborn genetic diseases [RCV004453902] Chr21:41756811 [GRCh38]
Chr21:43176971 [GRCh37]
Chr21:21q22.3		 uncertain significance
GRCh37/hg19 21q11.2-22.3(chr21:15380398-48100790)x3 copy number gain not provided [RCV004577449] Chr21:15380398..48100790 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
NM_020639.3(RIPK4):c.809C>A (p.Pro270Gln) single nucleotide variant Inborn genetic diseases [RCV004453907] Chr21:41746636 [GRCh38]
Chr21:43166796 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_020639.3(RIPK4):c.1459G>A (p.Val487Met) single nucleotide variant Inborn genetic diseases [RCV004453895] Chr21:41741734 [GRCh38]
Chr21:43161894 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_020639.3(RIPK4):c.1042G>A (p.Glu348Lys) single nucleotide variant Inborn genetic diseases [RCV004663261] Chr21:41744035 [GRCh38]
Chr21:43164195 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_020639.3(RIPK4):c.752G>A (p.Arg251Gln) single nucleotide variant Inborn genetic diseases [RCV004663264] Chr21:41746693 [GRCh38]
Chr21:43166853 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_020639.3(RIPK4):c.236G>A (p.Arg79His) single nucleotide variant Inborn genetic diseases [RCV004672050] Chr21:41756763 [GRCh38]
Chr21:43176923 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_020639.3(RIPK4):c.1178G>A (p.Arg393Gln) single nucleotide variant Inborn genetic diseases [RCV004663259] Chr21:41743899 [GRCh38]
Chr21:43164059 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_020639.3(RIPK4):c.1966C>T (p.Leu656Phe) single nucleotide variant Inborn genetic diseases [RCV004663262] Chr21:41741227 [GRCh38]
Chr21:43161387 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_020639.3(RIPK4):c.1364A>G (p.Lys455Arg) single nucleotide variant Inborn genetic diseases [RCV004663266] Chr21:41741829 [GRCh38]
Chr21:43161989 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_020639.3(RIPK4):c.1930G>A (p.Ala644Thr) single nucleotide variant Inborn genetic diseases [RCV004663267] Chr21:41741263 [GRCh38]
Chr21:43161423 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_020639.3(RIPK4):c.2036G>A (p.Arg679His) single nucleotide variant Inborn genetic diseases [RCV004663265] Chr21:41741157 [GRCh38]
Chr21:43161317 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_020639.3(RIPK4):c.992G>C (p.Ser331Thr) single nucleotide variant Inborn genetic diseases [RCV004663263] Chr21:41744085 [GRCh38]
Chr21:43164245 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_020639.3(RIPK4):c.720C>T (p.His240=) single nucleotide variant RIPK4-related disorder [RCV004754033] Chr21:41746725 [GRCh38]
Chr21:43166885 [GRCh37]
Chr21:21q22.3		 likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1739
Count of miRNA genes:609
Interacting mature miRNAs:678
Transcripts:ENST00000332512, ENST00000352483, ENST00000542057, ENST00000544709
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
2303081MAMTS49_HMammary tumor susceptibility QTL 49 (human)1.72Mammary tumor susceptibility211795044843950448Human
407047785GWAS696761_Htriacylglycerol 52:2 measurement QTL GWAS696761 (human)0.000008blood triglyceride amount (VT:0002644)214176560541765606Human

Markers in Region
RH99224  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372143,159,672 - 43,159,835UniSTSGRCh37
Build 362142,032,741 - 42,032,904RGDNCBI36
Celera2128,309,476 - 28,309,639RGD
Cytogenetic Map21q22.3UniSTS
HuRef2128,579,572 - 28,579,735UniSTS
GeneMap99-GB4 RH Map21222.23UniSTS
GDB:182516  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map4q21.21UniSTS
Cytogenetic Map19p13.1UniSTS
Cytogenetic Map10q23.33UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map21q22.3UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
1167 2426 2614 2198 4417 1701 2342 4 622 1664 464 2231 6782 6096 46 3197 846 1716 1609 170

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_032113 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_020639 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB047783 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF308292 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ278016 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK027424 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK296685 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK302592 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK316412 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL137448 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP001615 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP001616 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP001743 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC035755 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC110617 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC110618 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM979316 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471079 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068257 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF457324 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000332512   ⟹   ENSP00000332454
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2141,739,373 - 41,767,052 (-)Ensembl
Ensembl Acc Id: ENST00000352483   ⟹   ENSP00000330161
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2141,739,369 - 41,767,089 (-)Ensembl
RefSeq Acc Id: NM_020639   ⟹   NP_065690
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382141,739,373 - 41,767,052 (-)NCBI
GRCh372143,159,529 - 43,187,249 (-)RGD
Build 362142,032,598 - 42,060,318 (-)NCBI Archive
Celera2128,309,333 - 28,337,056 (-)RGD
HuRef2128,579,429 - 28,607,166 (-)ENTREZGENE
CHM1_12142,720,210 - 42,748,089 (-)NCBI
T2T-CHM13v2.02140,129,762 - 40,157,439 (-)NCBI
Sequence:
RefSeq Acc Id: NP_065690   ⟸   NM_020639
- UniProtKB: Q9H4D1 (UniProtKB/TrEMBL),   Q2TB16 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000332454   ⟸   ENST00000332512
Ensembl Acc Id: ENSP00000330161   ⟸   ENST00000352483
Protein Domains
Protein kinase

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P57078-F1-model_v2 AlphaFold P57078 1-832 view protein structure

Promoters
RGD ID:13602896
Promoter ID:EPDNEW_H27632
Type:initiation region
Name:RIPK4_1
Description:receptor interacting serine/threonine kinase 4
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H27633  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382141,767,052 - 41,767,112EPDNEW
RGD ID:13602898
Promoter ID:EPDNEW_H27633
Type:initiation region
Name:RIPK4_2
Description:receptor interacting serine/threonine kinase 4
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H27632  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382141,768,652 - 41,768,712EPDNEW
RGD ID:6799433
Promoter ID:HG_KWN:40989
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell_12Hour,   HeLa_S3,   Lymphoblastoid
Transcripts:ENST00000330470,   ENST00000332512,   ENST00000352483
Position:
Human AssemblyChrPosition (strand)Source
Build 362142,060,069 - 42,060,569 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:496 AgrOrtholog
COSMIC RIPK4 COSMIC
Ensembl Genes ENSG00000183421 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000332512 ENTREZGENE
  ENST00000332512.8 UniProtKB/Swiss-Prot
  ENST00000352483.3 UniProtKB/Swiss-Prot
Gene3D-CATH 1.25.40.20 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Transferase(Phosphotransferase) domain 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000183421 GTEx
HGNC ID HGNC:496 ENTREZGENE
Human Proteome Map RIPK4 Human Proteome Map
InterPro Ankyrin_rpt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ankyrin_rpt-contain_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Kinase-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Prot_kinase_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Protein_kinase_ATP_BS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ser/Thr_kinase_AS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:54101 UniProtKB/TrEMBL
NCBI Gene 54101 ENTREZGENE
OMIM 605706 OMIM
PANTHER ANKYRIN REPEAT AND PROTEIN KINASE DOMAIN-CONTAINING PROTEIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RECEPTOR-INTERACTING SERINE/THREONINE-PROTEIN KINASE 4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Ank_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ank_4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Pkinase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA24805 PharmGKB
PRINTS ANKYRIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE ANK_REP_REGION UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ANK_REPEAT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PROTEIN_KINASE_ATP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PROTEIN_KINASE_DOM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PROTEIN_KINASE_ST UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART ANK UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  S_TKc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF48403 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF56112 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt P57078 ENTREZGENE
  Q2TB16 ENTREZGENE, UniProtKB/TrEMBL
  Q96T11_HUMAN UniProtKB/TrEMBL
  Q9H4D1 ENTREZGENE, UniProtKB/TrEMBL
  RIPK4_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary Q96KH0 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-24 RIPK4  receptor interacting serine/threonine kinase 4  RIPK4  receptor-interacting serine-threonine kinase 4  Symbol and/or name change 5135510 APPROVED