B3GLCT (beta 3-glucosyltransferase) - Rat Genome Database

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Gene: B3GLCT (beta 3-glucosyltransferase) Homo sapiens
Analyze
Symbol: B3GLCT
Name: beta 3-glucosyltransferase
RGD ID: 1604745
HGNC Page HGNC:20207
Description: Predicted to enable acetylglucosaminyltransferase activity. Predicted to be involved in protein O-linked fucosylation. Predicted to act upstream of or within several processes, including cilium assembly; protein secretion; and roof of mouth development. Predicted to be located in endoplasmic reticulum and membrane. Predicted to be active in endoplasmic reticulum membrane. Implicated in Peters plus syndrome.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: B3GALTL; B3Glc-T; B3GTL; beta 1,3-galactosyltransferase-like; beta 3-glycosyltransferase-like; beta-1,3-glucosyltransferase; beta-3-glycosyltransferase-like; beta3Glc-T; Gal-T; UDP-GAL:beta-GlcNAc beta-1,3-galactosyltransferase-like
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
GRCh381331,199,975 - 31,332,276 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1331,199,975 - 31,332,276 (+)EnsemblGRCh38hg38GRCh38
GRCh371331,774,112 - 31,906,413 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361330,672,112 - 30,804,413 (+)NCBINCBI36Build 36hg18NCBI36
Celera1312,841,849 - 12,974,020 (+)NCBICelera
Cytogenetic Map13q12.3NCBI
HuRef1312,600,539 - 12,717,555 (+)NCBIHuRef
CHM1_11331,741,727 - 31,874,040 (+)NCBICHM1_1
T2T-CHM13v2.01330,422,990 - 30,555,445 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal cardiac septum morphology  (IAGP)
Abnormal pelvic girdle bone morphology  (IAGP)
Abnormal pulmonary vein morphology  (IAGP)
Abnormality of the pulmonary artery  (IAGP)
Abnormality of vision  (IAGP)
Agenesis of corpus callosum  (IAGP)
Agenesis of maxillary lateral incisor  (IAGP)
Anal atresia  (IAGP)
Anterior chamber synechiae  (IAGP)
Anterior hypopituitarism  (IAGP)
Anteriorly placed anus  (IAGP)
Anteverted nares  (IAGP)
Aplasia/Hypoplasia of the corpus callosum  (IAGP)
Atrial septal defect  (IAGP)
Autosomal recessive inheritance  (IAGP)
Bicuspid pulmonary valve  (IAGP)
Bilateral cleft lip  (IAGP)
Biliary tract abnormality  (IAGP)
Bilobate gallbladder  (IAGP)
Birth length less than 3rd percentile  (IAGP)
Brachycephaly  (IAGP)
Brachydactyly  (IAGP)
Broad foot  (IAGP)
Broad neck  (IAGP)
Broad palm  (IAGP)
Cataract  (IAGP)
Cerebral atrophy  (IAGP)
Cerebral cortical atrophy  (IAGP)
Cleft palate  (IAGP)
Cleft upper lip  (IAGP)
Clinodactyly of the 5th finger  (IAGP)
Clitoral hypoplasia  (IAGP)
Conductive hearing impairment  (IAGP)
Congenital hypothyroidism  (IAGP)
Conical incisor  (IAGP)
Corneal opacity  (IAGP)
Craniosynostosis  (IAGP)
Cryptorchidism  (IAGP)
Decreased body weight  (IAGP)
Decreased fetal movement  (IAGP)
Depressed nasal bridge  (IAGP)
Diastasis recti  (IAGP)
Disproportionate short-limb short stature  (IAGP)
Exaggerated cupid's bow  (IAGP)
Facial hypertrichosis  (IAGP)
Feeding difficulties in infancy  (IAGP)
Frontal bossing  (IAGP)
Glaucoma  (IAGP)
Global developmental delay  (IAGP)
Hearing impairment  (IAGP)
Hemivertebrae  (IAGP)
Hydrocephalus  (IAGP)
Hydronephrosis  (IAGP)
Hypertelorism  (IAGP)
Hypoplasia of the maxilla  (IAGP)
Hypoplasia of the uterus  (IAGP)
Hypoplasia of the vagina  (IAGP)
Hypoplastic labia majora  (IAGP)
Hypoplastic left heart  (IAGP)
Hypospadias  (IAGP)
Inguinal hernia  (IAGP)
Intellectual disability  (IAGP)
Intellectual disability, progressive  (IAGP)
Intestinal fistula  (IAGP)
Intrauterine growth retardation  (IAGP)
Iris coloboma  (IAGP)
Joint hypermobility  (IAGP)
Limited elbow movement  (IAGP)
Long face  (IAGP)
Long philtrum  (IAGP)
Low-set ears  (IAGP)
Macrocephaly  (IAGP)
Microcephaly  (IAGP)
Microcornea  (IAGP)
Micrognathia  (IAGP)
Micromelia  (IAGP)
Microtia, second degree  (IAGP)
Multicystic kidney dysplasia  (IAGP)
Myopia  (IAGP)
Narrow palpebral fissure  (IAGP)
Nystagmus  (IAGP)
Optic atrophy  (IAGP)
Patent ductus arteriosus  (IAGP)
Pectus excavatum  (IAGP)
Pes cavus  (IAGP)
Peters anomaly  (IAGP)
Polyhydramnios  (IAGP)
Posteriorly rotated ears  (IAGP)
Postnatal growth retardation  (IAGP)
Preauricular pit  (IAGP)
Preauricular skin tag  (IAGP)
Prominent forehead  (IAGP)
Protruding ear  (IAGP)
Proximal placement of thumb  (IAGP)
Ptosis  (IAGP)
Pulmonic stenosis  (IAGP)
Renal duplication  (IAGP)
Renal hypoplasia  (IAGP)
Renal hypoplasia/aplasia  (IAGP)
Retinal coloboma  (IAGP)
Rhizomelia  (IAGP)
Round face  (IAGP)
Sacral dimple  (IAGP)
Scoliosis  (IAGP)
Seizure  (IAGP)
Short columella  (IAGP)
Short foot  (IAGP)
Short lingual frenulum  (IAGP)
Short metacarpal  (IAGP)
Short metatarsal  (IAGP)
Short neck  (IAGP)
Short nose  (IAGP)
Short palm  (IAGP)
Short palpebral fissure  (IAGP)
Short stature  (IAGP)
Short toe  (IAGP)
Single transverse palmar crease  (IAGP)
Spina bifida occulta  (IAGP)
Square pelvis bone  (IAGP)
Stenosis of the external auditory canal  (IAGP)
Syndactyly  (IAGP)
Thin upper lip vermilion  (IAGP)
Thin vermilion border  (IAGP)
Toe syndactyly  (IAGP)
Umbilical hernia  (IAGP)
Upslanted palpebral fissure  (IAGP)
Ureteral duplication  (IAGP)
Ventricular septal defect  (IAGP)
Ventriculomegaly  (IAGP)
Visual impairment  (IAGP)
Webbed neck  (IAGP)
Wide anterior fontanel  (IAGP)
Wide intermamillary distance  (IAGP)
Wide mouth  (IAGP)
Widely spaced teeth  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
2. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
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:12477932   PMID:12943678   PMID:14702039   PMID:15057823   PMID:15489334   PMID:16344560   PMID:16899492   PMID:16909395   PMID:17032646   PMID:18199743   PMID:18798333   PMID:19322201  
PMID:19796186   PMID:20301637   PMID:20379614   PMID:21067481   PMID:21671750   PMID:21873635   PMID:22759511   PMID:23455636   PMID:23889335   PMID:23954224   PMID:25544610   PMID:26186194  
PMID:26496610   PMID:27049305   PMID:28514442   PMID:30021884   PMID:32204707   PMID:32994395   PMID:33961781   PMID:33995658   PMID:34058199   PMID:34079125   PMID:34597346   PMID:34695439  
PMID:35696571   PMID:35831314   PMID:39499777  


Genomics

Comparative Map Data
B3GLCT
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381331,199,975 - 31,332,276 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1331,199,975 - 31,332,276 (+)EnsemblGRCh38hg38GRCh38
GRCh371331,774,112 - 31,906,413 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361330,672,112 - 30,804,413 (+)NCBINCBI36Build 36hg18NCBI36
Celera1312,841,849 - 12,974,020 (+)NCBICelera
Cytogenetic Map13q12.3NCBI
HuRef1312,600,539 - 12,717,555 (+)NCBIHuRef
CHM1_11331,741,727 - 31,874,040 (+)NCBICHM1_1
T2T-CHM13v2.01330,422,990 - 30,555,445 (+)NCBIT2T-CHM13v2.0
B3glct
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm395149,601,565 - 149,686,064 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl5149,601,695 - 149,686,064 (+)EnsemblGRCm39 Ensembl
GRCm385149,678,100 - 149,762,599 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl5149,678,230 - 149,762,599 (+)EnsemblGRCm38mm10GRCm38
MGSCv375150,480,832 - 150,565,174 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv365149,946,636 - 150,030,978 (+)NCBIMGSCv36mm8
Celera5147,678,917 - 147,763,679 (+)NCBICelera
Cytogenetic Map5G3NCBI
cM Map589.18NCBI
B3glct
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81210,291,910 - 10,383,190 (-)NCBIGRCr8
mRatBN7.2125,255,521 - 5,346,807 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl125,255,740 - 5,346,810 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx125,940,750 - 6,024,322 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0126,564,180 - 6,647,748 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0125,591,696 - 5,675,262 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0126,403,118 - 6,476,010 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl126,403,940 - 6,473,321 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0128,485,545 - 8,576,783 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4125,695,579 - 5,706,396 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera127,034,312 - 7,117,929 (-)NCBICelera
Cytogenetic Map12p11NCBI
B3glct
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495543114,507,184 - 14,633,351 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495543114,507,184 - 14,621,376 (-)NCBIChiLan1.0ChiLan1.0
B3GLCT
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21430,782,142 - 30,907,554 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11321,888,398 - 22,012,836 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01312,475,095 - 12,601,818 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11330,913,127 - 31,038,347 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1330,927,270 - 31,035,719 (+)Ensemblpanpan1.1panPan2
B3GLCT
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1258,815,681 - 8,938,899 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl258,817,628 - 8,939,249 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha258,858,395 - 8,981,403 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0258,920,118 - 9,043,371 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl258,910,525 - 9,043,736 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1258,817,894 - 8,942,955 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0258,825,921 - 8,950,637 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0258,869,284 - 8,992,465 (-)NCBIUU_Cfam_GSD_1.0
B3glct
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404945169,960,358 - 170,042,161 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493647225,942,662 - 26,006,288 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493647225,909,994 - 25,991,800 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
B3GLCT
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl117,792,368 - 7,907,049 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1117,792,160 - 7,907,052 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2117,763,470 - 7,875,165 (+)NCBISscrofa10.2Sscrofa10.2susScr3
B3GLCT
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1310,058,041 - 10,178,996 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl310,059,196 - 10,179,037 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605734,188,163 - 34,309,750 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
B3glct
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247766,825,204 - 6,922,791 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247766,823,388 - 6,954,114 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in B3GLCT
276 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_194318.4(B3GLCT):c.459+1G>A single nucleotide variant Inborn genetic diseases [RCV001266406]|Peters plus syndrome [RCV000001328]|not provided [RCV000521944] Chr13:31247967 [GRCh38]
Chr13:31822104 [GRCh37]
Chr13:13q12.3		 pathogenic|likely pathogenic
NM_194318.4(B3GLCT):c.1098T>A (p.Tyr366Ter) single nucleotide variant Peters plus syndrome [RCV000021077] Chr13:31317599 [GRCh38]
Chr13:31891736 [GRCh37]
Chr13:13q12.3		 pathogenic|not provided
NM_194318.4(B3GLCT):c.660+1G>A single nucleotide variant B3GLCT-related disorder [RCV003398411]|Peters plus syndrome [RCV000001326]|not provided [RCV000082789] Chr13:31269278 [GRCh38]
Chr13:31843415 [GRCh37]
Chr13:13q12.3		 pathogenic
NM_194318.4(B3GLCT):c.347+5G>A single nucleotide variant Peters plus syndrome [RCV000001327] Chr13:31247104 [GRCh38]
Chr13:31821241 [GRCh37]
Chr13:13q12.3		 pathogenic
B3GALTL, IVS6, G-A, +1 single nucleotide variant Peters plus syndrome [RCV000001328] Chr13:13q12.3 pathogenic
NM_194318.4(B3GLCT):c.230dup (p.Leu77fs) duplication Peters plus syndrome [RCV000001329] Chr13:31229252..31229253 [GRCh38]
Chr13:31803389..31803390 [GRCh37]
Chr13:13q12.3		 pathogenic
NM_194318.4(B3GLCT):c.1178G>A (p.Gly393Glu) single nucleotide variant Peters plus syndrome [RCV000001330] Chr13:31317679 [GRCh38]
Chr13:31891816 [GRCh37]
Chr13:13q12.3		 pathogenic
GRCh37/hg19 13q11-34(chr13:19053605-115108528)x3 copy number gain See cases [RCV001353184] Chr13:19053605..115108528 [GRCh37]
Chr13:13q11-34		 pathogenic
GRCh38/hg38 13q12.3-13.1(chr13:29654134-32858245)x1 copy number loss See cases [RCV000051372] Chr13:29654134..32858245 [GRCh38]
Chr13:30228271..33432383 [GRCh37]
Chr13:29126271..32330383 [NCBI36]
Chr13:13q12.3-13.1		 pathogenic
GRCh38/hg38 13q12.3-21.33(chr13:30697728-69471973)x1 copy number loss See cases [RCV000051373] Chr13:30697728..69471973 [GRCh38]
Chr13:31271865..70046105 [GRCh37]
Chr13:30169865..68944106 [NCBI36]
Chr13:13q12.3-21.33		 pathogenic
GRCh38/hg38 13q12.3-13.2(chr13:31164047-34428736)x1 copy number loss See cases [RCV000051374] Chr13:31164047..34428736 [GRCh38]
Chr13:31738184..35002873 [GRCh37]
Chr13:30636184..33900873 [NCBI36]
Chr13:13q12.3-13.2		 pathogenic
GRCh38/hg38 13q12.11-34(chr13:18946182-114304628)x3 copy number gain See cases [RCV000053726] Chr13:18946182..114304628 [GRCh38]
Chr13:19520322..115070103 [GRCh37]
Chr13:18418322..114088205 [NCBI36]
Chr13:13q12.11-34		 pathogenic
GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3 copy number gain See cases [RCV000053731] Chr13:19837395..114327173 [GRCh38]
Chr13:20411535..115085141 [GRCh37]
Chr13:19309535..114110750 [NCBI36]
Chr13:13q12.11-34		 pathogenic
GRCh38/hg38 13q12.3-31.1(chr13:30318913-83610426)x3 copy number gain See cases [RCV000053737] Chr13:30318913..83610426 [GRCh38]
Chr13:30893050..84184561 [GRCh37]
Chr13:29791050..83082562 [NCBI36]
Chr13:13q12.3-31.1		 pathogenic
GRCh38/hg38 13q11-34(chr13:18565048-114327173)x3 copy number gain See cases [RCV000053719] Chr13:18565048..114327173 [GRCh38]
Chr13:19139188..115085141 [GRCh37]
Chr13:18037188..114110750 [NCBI36]
Chr13:13q11-34		 pathogenic
GRCh38/hg38 13q11-13.3(chr13:18676442-37656039)x3 copy number gain See cases [RCV000053721] Chr13:18676442..37656039 [GRCh38]
Chr13:19250582..38230176 [GRCh37]
Chr13:18148582..37128176 [NCBI36]
Chr13:13q11-13.3		 pathogenic
GRCh38/hg38 13q11-34(chr13:18850545-114327173)x3 copy number gain See cases [RCV000053723] Chr13:18850545..114327173 [GRCh38]
Chr13:19296527..115085141 [GRCh37]
Chr13:18194527..114110750 [NCBI36]
Chr13:13q11-34		 pathogenic
NM_194318.4(B3GLCT):c.1064+10C>T single nucleotide variant Peters plus syndrome [RCV000882361]|not specified [RCV000082783] Chr13:31286829 [GRCh38]
Chr13:31860966 [GRCh37]
Chr13:13q12.3		 benign
NM_194318.4(B3GLCT):c.1108G>A (p.Glu370Lys) single nucleotide variant Peters plus syndrome [RCV001111252]|not provided [RCV000840285]|not specified [RCV000082784] Chr13:31317609 [GRCh38]
Chr13:31891746 [GRCh37]
Chr13:13q12.3		 benign
NM_194318.4(B3GLCT):c.271-12T>C single nucleotide variant Peters plus syndrome [RCV001113163]|not provided [RCV001565203]|not specified [RCV000082785] Chr13:31247011 [GRCh38]
Chr13:31821148 [GRCh37]
Chr13:13q12.3		 benign|likely benign
NM_194318.4(B3GLCT):c.347+20C>G single nucleotide variant Peters plus syndrome [RCV001516704]|not provided [RCV001650936]|not specified [RCV000082786] Chr13:31247119 [GRCh38]
Chr13:31821256 [GRCh37]
Chr13:13q12.3		 benign
NM_194318.4(B3GLCT):c.347+4C>T single nucleotide variant Peters plus syndrome [RCV001114524]|not provided [RCV000840284]|not specified [RCV000082787] Chr13:31247103 [GRCh38]
Chr13:31821240 [GRCh37]
Chr13:13q12.3		 benign
NM_194318.4(B3GLCT):c.348T>C (p.His116=) single nucleotide variant Peters plus syndrome [RCV001114525]|not provided [RCV000835712]|not specified [RCV000082788] Chr13:31247855 [GRCh38]
Chr13:31821992 [GRCh37]
Chr13:13q12.3		 benign
NM_194318.4(B3GLCT):c.672C>T (p.Tyr224=) single nucleotide variant Peters plus syndrome [RCV001114527]|not provided [RCV004706507]|not specified [RCV000082790] Chr13:31274520 [GRCh38]
Chr13:31848657 [GRCh37]
Chr13:13q12.3		 benign
NM_194318.4(B3GLCT):c.733G>A (p.Val245Met) single nucleotide variant Peters plus syndrome [RCV001080971]|not provided [RCV000514548]|not specified [RCV000082791] Chr13:31274581 [GRCh38]
Chr13:31848718 [GRCh37]
Chr13:13q12.3		 benign|likely benign
NM_194318.4(B3GLCT):c.1067_1082del (p.Ile356fs) deletion not provided [RCV000174621] Chr13:31317567..31317582 [GRCh38]
Chr13:31891704..31891719 [GRCh37]
Chr13:13q12.3		 pathogenic
NM_194318.4(B3GLCT):c.1065-1G>A single nucleotide variant not provided [RCV000174622] Chr13:31317565 [GRCh38]
Chr13:31891702 [GRCh37]
Chr13:13q12.3		 pathogenic
NM_194318.4(B3GLCT):c.161-8dup duplication Peters plus syndrome [RCV002054114]|not specified [RCV000178408] Chr13:31229168..31229169 [GRCh38]
Chr13:31803314 [GRCh37]
Chr13:13q12.3		 benign
NM_194318.4(B3GLCT):c.1046A>G (p.Asp349Gly) single nucleotide variant not provided [RCV000174425] Chr13:31286801 [GRCh38]
Chr13:31860938 [GRCh37]
Chr13:13q12.3		 uncertain significance
NM_194318.4(B3GLCT):c.932C>T (p.Thr311Ile) single nucleotide variant Peters plus syndrome [RCV001064210]|not provided [RCV000174184] Chr13:31284729 [GRCh38]
Chr13:31858866 [GRCh37]
Chr13:13q12.3		 uncertain significance
GRCh38/hg38 13q12.11-34(chr13:19833130-114298614)x3 copy number gain See cases [RCV000134104] Chr13:19833130..114298614 [GRCh38]
Chr13:20407270..115064089 [GRCh37]
Chr13:19305270..114082191 [NCBI36]
Chr13:13q12.11-34		 pathogenic
GRCh38/hg38 13q12.3(chr13:31155509-31284676)x3 copy number gain See cases [RCV000135176] Chr13:31155509..31284676 [GRCh38]
Chr13:31729646..31858813 [GRCh37]
Chr13:30627646..30756813 [NCBI36]
Chr13:13q12.3		 likely benign
GRCh38/hg38 13q11-34(chr13:18445862-114327173)x1 copy number loss See cases [RCV000135610] Chr13:18445862..114327173 [GRCh38]
Chr13:19020001..115085141 [GRCh37]
Chr13:10098739..114110750 [NCBI36]
Chr13:13q11-34		 pathogenic
GRCh38/hg38 13q12.11-14.11(chr13:19671934-40914767)x3 copy number gain See cases [RCV000137892] Chr13:19671934..40914767 [GRCh38]
Chr13:20246074..41488903 [GRCh37]
Chr13:19144074..40386903 [NCBI36]
Chr13:13q12.11-14.11		 pathogenic
GRCh38/hg38 13q12.3-13.3(chr13:29073320-36556014)x1 copy number loss See cases [RCV000137923] Chr13:29073320..36556014 [GRCh38]
Chr13:29647457..37130151 [GRCh37]
Chr13:28545457..36028151 [NCBI36]
Chr13:13q12.3-13.3		 pathogenic
GRCh38/hg38 13q12.3-14.2(chr13:31018160-48491204)x1 copy number loss See cases [RCV000138723] Chr13:31018160..48491204 [GRCh38]
Chr13:31592297..49065340 [GRCh37]
Chr13:30490297..47963341 [NCBI36]
Chr13:13q12.3-14.2		 pathogenic
GRCh38/hg38 13q12.3-13.3(chr13:30313809-39267681)x1 copy number loss See cases [RCV000139225] Chr13:30313809..39267681 [GRCh38]
Chr13:30887946..39841818 [GRCh37]
Chr13:29785946..38739818 [NCBI36]
Chr13:13q12.3-13.3		 pathogenic
GRCh38/hg38 13q12.11-34(chr13:19833130-114327106)x3 copy number gain See cases [RCV000139078] Chr13:19833130..114327106 [GRCh38]
Chr13:20407270..115085141 [GRCh37]
Chr13:19305270..114110683 [NCBI36]
Chr13:13q12.11-34		 pathogenic
GRCh38/hg38 13q11-34(chr13:18456040-114340285)x3 copy number gain See cases [RCV000140004] Chr13:18456040..114340285 [GRCh38]
Chr13:19030180..115105760 [GRCh37]
Chr13:17928180..114123862 [NCBI36]
Chr13:13q11-34		 pathogenic
GRCh38/hg38 13q11-13.2(chr13:18862146-33577351)x3 copy number gain See cases [RCV000141867] Chr13:18862146..33577351 [GRCh38]
Chr13:19436286..34151488 [GRCh37]
Chr13:18334286..33049488 [NCBI36]
Chr13:13q11-13.2		 pathogenic
GRCh38/hg38 13q12.11-34(chr13:19671934-114340331)x3 copy number gain See cases [RCV000142924] Chr13:19671934..114340331 [GRCh38]
Chr13:20246074..115085141 [GRCh37]
Chr13:19144074..114123908 [NCBI36]
Chr13:13q12.11-34		 pathogenic
GRCh38/hg38 13q12.3-13.3(chr13:29321454-36995348)x3 copy number gain See cases [RCV000142869] Chr13:29321454..36995348 [GRCh38]
Chr13:29895591..37569485 [GRCh37]
Chr13:28793591..36467485 [NCBI36]
Chr13:13q12.3-13.3		 pathogenic
GRCh38/hg38 13q11-34(chr13:18862146-114342258)x3 copy number gain See cases [RCV000143462] Chr13:18862146..114342258 [GRCh38]
Chr13:19436286..115107733 [GRCh37]
Chr13:18334286..114125835 [NCBI36]
Chr13:13q11-34		 pathogenic
NM_194318.4(B3GLCT):c.71-5del deletion Peters plus syndrome [RCV001554045]|not provided [RCV001596977]|not specified [RCV000152820] Chr13:31215033 [GRCh38]
Chr13:31789170 [GRCh37]
Chr13:13q12.3		 benign|likely benign|uncertain significance
NM_194318.4(B3GLCT):c.1329+6G>T single nucleotide variant Peters plus syndrome [RCV001087530]|not provided [RCV000152822] Chr13:31323901 [GRCh38]
Chr13:31898038 [GRCh37]
Chr13:13q12.3		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_194318.4(B3GLCT):c.1330-5T>C single nucleotide variant Peters plus syndrome [RCV001078498]|not provided [RCV000152823] Chr13:31329496 [GRCh38]
Chr13:31903633 [GRCh37]
Chr13:13q12.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_194318.4(B3GLCT):c.917A>G (p.Glu306Gly) single nucleotide variant not specified [RCV000202900] Chr13:31284714 [GRCh38]
Chr13:31858851 [GRCh37]
Chr13:13q12.3		 uncertain significance
NM_194318.4(B3GLCT):c.902A>T (p.Tyr301Phe) single nucleotide variant B3GLCT-related disorder [RCV003975195]|Peters plus syndrome [RCV000872816]|not specified [RCV000152821] Chr13:31284699 [GRCh38]
Chr13:31858836 [GRCh37]
Chr13:13q12.3		 benign
GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3 copy number gain See cases [RCV000148126] Chr13:19837395..114327173 [GRCh38]
Chr13:20411535..115085141 [GRCh37]
Chr13:19309535..114110750 [NCBI36]
Chr13:13q12.11-34		 pathogenic
NM_194318.4(B3GLCT):c.190A>G (p.Ser64Gly) single nucleotide variant not provided [RCV000178409] Chr13:31229214 [GRCh38]
Chr13:31803351 [GRCh37]
Chr13:13q12.3		 uncertain significance
NM_194318.4(B3GLCT):c.271-1835T>C single nucleotide variant not provided [RCV000190310] Chr13:31245188 [GRCh38]
Chr13:31245188..31245189 [GRCh38]
Chr13:31819325 [GRCh37]
Chr13:31819325..31819326 [GRCh37]
Chr13:13q12.3		 not provided
GRCh37/hg19 13q12.11-34(chr13:19571503-115092569)x3 copy number gain See cases [RCV000240150] Chr13:19571503..115092569 [GRCh37]
Chr13:13q12.11-34		 pathogenic
NM_194318.4(B3GLCT):c.1105G>A (p.Gly369Ser) single nucleotide variant Peters plus syndrome [RCV000556384]|not provided [RCV001547431]|not specified [RCV000252535] Chr13:31317606 [GRCh38]
Chr13:31891743 [GRCh37]
Chr13:13q12.3		 benign|likely benign
NM_194318.4(B3GLCT):c.1438C>T (p.Pro480Ser) single nucleotide variant not provided [RCV000279002] Chr13:31329609 [GRCh38]
Chr13:31903746 [GRCh37]
Chr13:13q12.3		 uncertain significance
NM_194318.4(B3GLCT):c.1134C>T (p.Tyr378=) single nucleotide variant B3GLCT-related disorder [RCV003930039]|Peters plus syndrome [RCV000872371]|not provided [RCV003391024]|not specified [RCV000382873] Chr13:31317635 [GRCh38]
Chr13:31891772 [GRCh37]
Chr13:13q12.3		 benign|likely benign
NM_194318.4(B3GLCT):c.1104C>T (p.Ser368=) single nucleotide variant B3GLCT-related disorder [RCV003947870]|Peters plus syndrome [RCV001088506]|not provided [RCV000385781] Chr13:31317605 [GRCh38]
Chr13:31891742 [GRCh37]
Chr13:13q12.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_194318.4(B3GLCT):c.271-8T>C single nucleotide variant Peters plus syndrome [RCV001084919]|not provided [RCV000488029] Chr13:31247015 [GRCh38]
Chr13:31821152 [GRCh37]
Chr13:13q12.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_194318.4(B3GLCT):c.1207G>A (p.Val403Ile) single nucleotide variant B3GLCT-related disorder [RCV003915342]|Peters plus syndrome [RCV000660388]|not provided [RCV000488352] Chr13:31323773 [GRCh38]
Chr13:31897910 [GRCh37]
Chr13:13q12.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_194318.4(B3GLCT):c.70+5G>A single nucleotide variant not provided [RCV000592536] Chr13:31200159 [GRCh38]
Chr13:31774296 [GRCh37]
Chr13:13q12.3		 uncertain significance
NM_194318.4(B3GLCT):c.181G>A (p.Val61Ile) single nucleotide variant Inborn genetic diseases [RCV004024723]|Peters plus syndrome [RCV001113160]|not provided [RCV000593789] Chr13:31229205 [GRCh38]
Chr13:31803342 [GRCh37]
Chr13:13q12.3		 uncertain significance
NM_194318.4(B3GLCT):c.1371A>G (p.Gln457=) single nucleotide variant B3GLCT-related disorder [RCV003928225]|Peters plus syndrome [RCV001085325]|not provided [RCV000730171] Chr13:31329542 [GRCh38]
Chr13:31903679 [GRCh37]
Chr13:13q12.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NC_000013.11:g.31199923A>G single nucleotide variant not provided [RCV001564626] Chr13:31199923 [GRCh38]
Chr13:31774060 [GRCh37]
Chr13:13q12.3		 likely benign
NM_194318.4(B3GLCT):c.271-209A>G single nucleotide variant not provided [RCV001545470] Chr13:31246814 [GRCh38]
Chr13:31820951 [GRCh37]
Chr13:13q12.3		 likely benign
GRCh37/hg19 13q12.3(chr13:31729646-31835742)x3 copy number gain See cases [RCV000449279] Chr13:31729646..31835742 [GRCh37]
Chr13:13q12.3		 likely benign
GRCh37/hg19 13q12.11-34(chr13:19571503-115092510) copy number gain See cases [RCV000449142] Chr13:19571503..115092510 [GRCh37]
Chr13:13q12.11-34		 pathogenic
NM_194318.4(B3GLCT):c.1010G>A (p.Arg337His) single nucleotide variant Peters plus syndrome [RCV001084046]|not provided [RCV000418176] Chr13:31286765 [GRCh38]
Chr13:31860902 [GRCh37]
Chr13:13q12.3		 benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3 copy number gain See cases [RCV000445886] Chr13:19436286..115107733 [GRCh37]
Chr13:13q11-34		 pathogenic
NM_194318.4(B3GLCT):c.1405G>T (p.Asp469Tyr) single nucleotide variant Inborn genetic diseases [RCV003243129]|Peters plus syndrome [RCV001861635]|not provided [RCV000420070] Chr13:31329576 [GRCh38]
Chr13:31903713 [GRCh37]
Chr13:13q12.3		 uncertain significance
NM_194318.4(B3GLCT):c.71-9T>C single nucleotide variant B3GLCT-related disorder [RCV003979883]|Peters plus syndrome [RCV001111154]|not specified [RCV000501279] Chr13:31215042 [GRCh38]
Chr13:31789179 [GRCh37]
Chr13:13q12.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 13q11-34(chr13:19436287-115107733) copy number gain See cases [RCV000510405] Chr13:19436287..115107733 [GRCh37]
Chr13:13q11-34		 pathogenic
NM_194318.4(B3GLCT):c.643A>G (p.Ile215Val) single nucleotide variant Inborn genetic diseases [RCV004023362]|not specified [RCV000502395] Chr13:31269260 [GRCh38]
Chr13:31843397 [GRCh37]
Chr13:13q12.3		 uncertain significance
GRCh37/hg19 13q12.3-13.1(chr13:31682663-33765790)x1 copy number loss See cases [RCV000511780] Chr13:31682663..33765790 [GRCh37]
Chr13:13q12.3-13.1		 pathogenic
GRCh37/hg19 13q11-34(chr13:19436287-115107733)x3 copy number gain See cases [RCV000511880] Chr13:19436287..115107733 [GRCh37]
Chr13:13q11-34		 pathogenic
GRCh37/hg19 13q12.3(chr13:31846981-32194074)x4 copy number gain See cases [RCV000510862] Chr13:31846981..32194074 [GRCh37]
Chr13:13q12.3		 uncertain significance
NM_194318.4(B3GLCT):c.121G>C (p.Asp41His) single nucleotide variant Inborn genetic diseases [RCV003274817] Chr13:31222952 [GRCh38]
Chr13:31797089 [GRCh37]
Chr13:13q12.3		 uncertain significance
GRCh37/hg19 13q12.12-13.2(chr13:24080918-34361992)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626443] Chr13:24080918..34361992 [GRCh37]
Chr13:13q12.12-13.2		 drug response
NM_194318.4(B3GLCT):c.288C>T (p.Leu96=) single nucleotide variant Peters plus syndrome [RCV001085770]|not provided [RCV000597125] Chr13:31247040 [GRCh38]
Chr13:31821177 [GRCh37]
Chr13:13q12.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_194318.4(B3GLCT):c.728A>G (p.Asn243Ser) single nucleotide variant Peters plus syndrome [RCV001860197]|not provided [RCV000597841] Chr13:31274576 [GRCh38]
Chr13:31848713 [GRCh37]
Chr13:13q12.3		 uncertain significance
GRCh37/hg19 13q11-22.1(chr13:19436286-74045459)x3 copy number gain not provided [RCV000683572] Chr13:19436286..74045459 [GRCh37]
Chr13:13q11-22.1		 pathogenic
NM_194318.4(B3GLCT):c.968A>G (p.His323Arg) single nucleotide variant Peters plus syndrome [RCV000686948] Chr13:31286723 [GRCh38]
Chr13:31860860 [GRCh37]
Chr13:13q12.3		 uncertain significance
NM_194318.4(B3GLCT):c.56T>C (p.Leu19Pro) single nucleotide variant Inborn genetic diseases [RCV003163208]|Peters plus syndrome [RCV000696889] Chr13:31200140 [GRCh38]
Chr13:31774277 [GRCh37]
Chr13:13q12.3		 uncertain significance
NM_194318.4(B3GLCT):c.450C>A (p.Asp150Glu) single nucleotide variant Peters plus syndrome [RCV002067183]|not provided [RCV004704202]|not specified [RCV000736098] Chr13:31247957 [GRCh38]
Chr13:31822094 [GRCh37]
Chr13:13q12.3		 benign|likely benign
GRCh37/hg19 13q11-34(chr13:19058717-115103529)x3 copy number gain not provided [RCV000738115] Chr13:19058717..115103529 [GRCh37]
Chr13:13q11-34		 pathogenic
GRCh37/hg19 13q11-34(chr13:19031237-115107157)x3 copy number gain not provided [RCV000750643] Chr13:19031237..115107157 [GRCh37]
Chr13:13q11-34		 pathogenic
NM_194318.4(B3GLCT):c.714T>G (p.Pro238=) single nucleotide variant not provided [RCV000915814] Chr13:31274562 [GRCh38]
Chr13:31848699 [GRCh37]
Chr13:13q12.3		 likely benign
NM_194318.4(B3GLCT):c.660+250A>G single nucleotide variant not provided [RCV001541112] Chr13:31269527 [GRCh38]
Chr13:31843664 [GRCh37]
Chr13:13q12.3		 benign
NM_194318.4(B3GLCT):c.121-120G>C single nucleotide variant Peters plus syndrome [RCV001554046]|not provided [RCV001685514] Chr13:31222832 [GRCh38]
Chr13:31796969 [GRCh37]
Chr13:13q12.3		 benign
NM_194318.4(B3GLCT):c.780+58A>G single nucleotide variant Peters plus syndrome [RCV001554048]|not provided [RCV001685515] Chr13:31274686 [GRCh38]
Chr13:31848823 [GRCh37]
Chr13:13q12.3		 benign
NM_194318.4(B3GLCT):c.850+81G>A single nucleotide variant Peters plus syndrome [RCV001554207]|not provided [RCV001673203] Chr13:31276852 [GRCh38]
Chr13:31850989 [GRCh37]
Chr13:13q12.3		 benign
NM_194318.4(B3GLCT):c.*1801A>G single nucleotide variant Peters plus syndrome [RCV001114735]|not provided [RCV004707548] Chr13:31331469 [GRCh38]
Chr13:31905606 [GRCh37]
Chr13:13q12.3		 benign
NM_194318.4(B3GLCT):c.*2067A>G single nucleotide variant Peters plus syndrome [RCV001114738]|not provided [RCV004707549] Chr13:31331735 [GRCh38]
Chr13:31905872 [GRCh37]
Chr13:13q12.3		 benign
NM_194318.4(B3GLCT):c.1064+103G>A single nucleotide variant not provided [RCV001680470] Chr13:31286922 [GRCh38]
Chr13:31861059 [GRCh37]
Chr13:13q12.3		 benign
NM_194318.4(B3GLCT):c.660+184A>G single nucleotide variant not provided [RCV001612034] Chr13:31269461 [GRCh38]
Chr13:31843598 [GRCh37]
Chr13:13q12.3		 benign
NM_194318.4(B3GLCT):c.231A>G (p.Leu77=) single nucleotide variant not provided [RCV000899487] Chr13:31229255 [GRCh38]
Chr13:31803392 [GRCh37]
Chr13:13q12.3		 likely benign
NM_194318.4(B3GLCT):c.264T>C (p.Leu88=) single nucleotide variant Peters plus syndrome [RCV001113161]|not provided [RCV000945531] Chr13:31229288 [GRCh38]
Chr13:31803425 [GRCh37]
Chr13:13q12.3		 likely benign|uncertain significance
NM_194318.4(B3GLCT):c.180C>T (p.Phe60=) single nucleotide variant Peters plus syndrome [RCV000946162]|not provided [RCV004704361] Chr13:31229204 [GRCh38]
Chr13:31803341 [GRCh37]
Chr13:13q12.3		 likely benign
NM_194318.4(B3GLCT):c.161-7G>T single nucleotide variant not provided [RCV000945709] Chr13:31229178 [GRCh38]
Chr13:31803315 [GRCh37]
Chr13:13q12.3		 likely benign
NM_194318.4(B3GLCT):c.519C>G (p.Ala173=) single nucleotide variant not provided [RCV000900388] Chr13:31261005 [GRCh38]
Chr13:31835142 [GRCh37]
Chr13:13q12.3		 likely benign
NM_194318.4(B3GLCT):c.1135G>A (p.Gly379Ser) single nucleotide variant Inborn genetic diseases [RCV002553920]|Peters plus syndrome [RCV001062297] Chr13:31317636 [GRCh38]
Chr13:31891773 [GRCh37]
Chr13:13q12.3		 uncertain significance
NM_194318.4(B3GLCT):c.127G>A (p.Glu43Lys) single nucleotide variant Peters plus syndrome [RCV001036219] Chr13:31222958 [GRCh38]
Chr13:31797095 [GRCh37]
Chr13:13q12.3		 uncertain significance
NM_194318.4(B3GLCT):c.1071C>T (p.Ser357=) single nucleotide variant not provided [RCV000918531] Chr13:31317572 [GRCh38]
Chr13:31891709 [GRCh37]
Chr13:13q12.3		 likely benign
NM_194318.4(B3GLCT):c.460-8T>A single nucleotide variant Peters plus syndrome [RCV002064893] Chr13:31260938 [GRCh38]
Chr13:31835075 [GRCh37]
Chr13:13q12.3		 likely benign
NM_194318.4(B3GLCT):c.661-7G>T single nucleotide variant Peters plus syndrome [RCV001399346] Chr13:31274502 [GRCh38]
Chr13:31848639 [GRCh37]
Chr13:13q12.3		 likely benign
NM_194318.4(B3GLCT):c.270+9C>T single nucleotide variant Peters plus syndrome [RCV001445358] Chr13:31229303 [GRCh38]
Chr13:31803440 [GRCh37]
Chr13:13q12.3		 likely benign
NC_000013.11:g.31247103C>T single nucleotide variant not provided [RCV000840284] Chr13:31821240 [GRCh37]
Chr13:13q12.3		 benign
NM_194318.4(B3GLCT):c.1447G>A (p.Glu483Lys) single nucleotide variant Peters plus syndrome [RCV000818735] Chr13:31329618 [GRCh38]
Chr13:31903755 [GRCh37]
Chr13:13q12.3		 uncertain significance
NM_194318.4(B3GLCT):c.*522G>A single nucleotide variant Peters plus syndrome [RCV001114628] Chr13:31330190 [GRCh38]
Chr13:31904327 [GRCh37]
Chr13:13q12.3		 uncertain significance
NM_194318.4(B3GLCT):c.*2101T>C single nucleotide variant Peters plus syndrome [RCV001114740] Chr13:31331769 [GRCh38]
Chr13:31905906 [GRCh37]
Chr13:13q12.3		 benign
NM_194318.4(B3GLCT):c.*624G>A single nucleotide variant Peters plus syndrome [RCV001114629] Chr13:31330292 [GRCh38]
Chr13:31904429 [GRCh37]
Chr13:13q12.3		 uncertain significance
NM_194318.4(B3GLCT):c.*1719A>G single nucleotide variant Peters plus syndrome [RCV001114733] Chr13:31331387 [GRCh38]
Chr13:31905524 [GRCh37]
Chr13:13q12.3		 uncertain significance
NM_194318.4(B3GLCT):c.*406A>G single nucleotide variant Peters plus syndrome [RCV001114624] Chr13:31330074 [GRCh38]
Chr13:31904211 [GRCh37]
Chr13:13q12.3		 uncertain significance
NM_194318.4(B3GLCT):c.*410A>G single nucleotide variant Peters plus syndrome [RCV001114625] Chr13:31330078 [GRCh38]
Chr13:31904215 [GRCh37]
Chr13:13q12.3		 uncertain significance
NM_194318.4(B3GLCT):c.*510A>G single nucleotide variant Peters plus syndrome [RCV001114627] Chr13:31330178 [GRCh38]
Chr13:31904315 [GRCh37]
Chr13:13q12.3		 uncertain significance
GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3 copy number gain not provided [RCV000849129] Chr13:19436286..115107733 [GRCh37]
Chr13:13q11-34		 pathogenic
NM_194318.4(B3GLCT):c.129G>C (p.Glu43Asp) single nucleotide variant Inborn genetic diseases [RCV003259049]|Peters plus syndrome [RCV001045555] Chr13:31222960 [GRCh38]
Chr13:31797097 [GRCh37]
Chr13:13q12.3		 uncertain significance
NM_194318.4(B3GLCT):c.*127G>A single nucleotide variant Peters plus syndrome [RCV001113257] Chr13:31329795 [GRCh38]
Chr13:31903932 [GRCh37]
Chr13:13q12.3		 uncertain significance
NM_194318.4(B3GLCT):c.*225G>A single nucleotide variant Peters plus syndrome [RCV001113259] Chr13:31329893 [GRCh38]
Chr13:31904030 [GRCh37]
Chr13:13q12.3		 uncertain significance
NM_194318.4(B3GLCT):c.*286T>A single nucleotide variant Peters plus syndrome [RCV001113260] Chr13:31329954 [GRCh38]
Chr13:31904091 [GRCh37]
Chr13:13q12.3		 uncertain significance
NM_194318.4(B3GLCT):c.*1545C>T single nucleotide variant Peters plus syndrome [RCV001113359] Chr13:31331213 [GRCh38]
Chr13:31905350 [GRCh37]
Chr13:13q12.3		 uncertain significance
NM_194318.4(B3GLCT):c.*1693G>C single nucleotide variant Peters plus syndrome [RCV001113362]|not provided [RCV004707546] Chr13:31331361 [GRCh38]
Chr13:31905498 [GRCh37]
Chr13:13q12.3		 benign
NM_194318.4(B3GLCT):c.1354dup (p.Asp452fs) duplication Marfanoid habitus and intellectual disability [RCV000850420] Chr13:31329523..31329524 [GRCh38]
Chr13:31903660..31903661 [GRCh37]
Chr13:13q12.3		 uncertain significance
NM_194318.4(B3GLCT):c.*403T>A single nucleotide variant Peters plus syndrome [RCV001114623] Chr13:31330071 [GRCh38]
Chr13:31904208 [GRCh37]
Chr13:13q12.3		 uncertain significance
NM_194318.4(B3GLCT):c.877A>G (p.Ser293Gly) single nucleotide variant Peters plus syndrome [RCV001110488] Chr13:31284674 [GRCh38]
Chr13:31858811 [GRCh37]
Chr13:13q12.3		 uncertain significance
NM_194318.4(B3GLCT):c.-36C>G single nucleotide variant Peters plus syndrome [RCV001111152] Chr13:31200049 [GRCh38]
Chr13:31774186 [GRCh37]
Chr13:13q12.3		 uncertain significance
NM_194318.4(B3GLCT):c.87T>A (p.Ser29=) single nucleotide variant Peters plus syndrome [RCV001111155] Chr13:31215067 [GRCh38]
Chr13:31789204 [GRCh37]
Chr13:13q12.3		 uncertain significance
NM_194318.4(B3GLCT):c.1127A>G (p.Glu376Gly) single nucleotide variant Peters plus syndrome [RCV001111253] Chr13:31317628 [GRCh38]
Chr13:31891765 [GRCh37]
Chr13:13q12.3		 uncertain significance
NM_194318.4(B3GLCT):c.*888T>A single nucleotide variant Peters plus syndrome [RCV001111341] Chr13:31330556 [GRCh38]
Chr13:31904693 [GRCh37]
Chr13:13q12.3		 uncertain significance
NM_194318.4(B3GLCT):c.*889A>T single nucleotide variant Peters plus syndrome [RCV001111343] Chr13:31330557 [GRCh38]
Chr13:31904694 [GRCh37]
Chr13:13q12.3		 uncertain significance
NM_194318.4(B3GLCT):c.*1256G>C single nucleotide variant Peters plus syndrome [RCV001111346] Chr13:31330924 [GRCh38]
Chr13:31905061 [GRCh37]
Chr13:13q12.3		 uncertain significance
NM_194318.4(B3GLCT):c.*1449T>C single nucleotide variant Peters plus syndrome [RCV001111348] Chr13:31331117 [GRCh38]
Chr13:31905254 [GRCh37]
Chr13:13q12.3		 uncertain significance
NM_194318.4(B3GLCT):c.*755T>G single nucleotide variant Peters plus syndrome [RCV001108996] Chr13:31330423 [GRCh38]
Chr13:31904560 [GRCh37]
Chr13:13q12.3		 uncertain significance
NM_194318.4(B3GLCT):c.*2186G>A single nucleotide variant Peters plus syndrome [RCV001109108] Chr13:31331854 [GRCh38]
Chr13:31905991 [GRCh37]
Chr13:13q12.3		 uncertain significance
NM_194318.4(B3GLCT):c.*2188T>A single nucleotide variant Peters plus syndrome [RCV001109109] Chr13:31331856 [GRCh38]
Chr13:31905993 [GRCh37]
Chr13:13q12.3		 benign
NM_194318.4(B3GLCT):c.*2336A>C single nucleotide variant Peters plus syndrome [RCV001109110]|not provided [RCV004707540] Chr13:31332004 [GRCh38]
Chr13:31906141 [GRCh37]
Chr13:13q12.3		 benign
NM_194318.4(B3GLCT):c.850+11G>A single nucleotide variant Peters plus syndrome [RCV001114530] Chr13:31276782 [GRCh38]
Chr13:31850919 [GRCh37]
Chr13:13q12.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_194318.4(B3GLCT):c.384T>A (p.Ile128=) single nucleotide variant Peters plus syndrome [RCV003104809] Chr13:31247891 [GRCh38]
Chr13:31822028 [GRCh37]
Chr13:13q12.3		 likely benign
NM_194318.4(B3GLCT):c.661-248G>A single nucleotide variant not provided [RCV001574846] Chr13:31274261 [GRCh38]
Chr13:31848398 [GRCh37]
Chr13:13q12.3		 likely benign
NM_194318.4(B3GLCT):c.851-328G>C single nucleotide variant not provided [RCV001575996] Chr13:31284320 [GRCh38]
Chr13:31858457 [GRCh37]
Chr13:13q12.3		 likely benign
NM_194318.4(B3GLCT):c.596+50del deletion not provided [RCV001713563] Chr13:31261132 [GRCh38]
Chr13:31835269 [GRCh37]
Chr13:13q12.3		 benign
NM_194318.4(B3GLCT):c.347+95A>G single nucleotide variant not provided [RCV001556996] Chr13:31247194 [GRCh38]
Chr13:31821331 [GRCh37]
Chr13:13q12.3		 likely benign
NM_194318.4(B3GLCT):c.1184+302dup duplication not provided [RCV001650214] Chr13:31317977..31317978 [GRCh38]
Chr13:31892114..31892115 [GRCh37]
Chr13:13q12.3		 benign
NM_194318.4(B3GLCT):c.964+141T>A single nucleotide variant not provided [RCV001669962] Chr13:31284902 [GRCh38]
Chr13:31859039 [GRCh37]
Chr13:13q12.3		 benign
NM_194318.4(B3GLCT):c.70+129C>G single nucleotide variant not provided [RCV001549445] Chr13:31200283 [GRCh38]
Chr13:31774420 [GRCh37]
Chr13:13q12.3		 likely benign
NM_194318.4(B3GLCT):c.954T>C (p.Asn318=) single nucleotide variant not provided [RCV000873093] Chr13:31284751 [GRCh38]
Chr13:31858888 [GRCh37]
Chr13:13q12.3		 likely benign
NM_194318.4(B3GLCT):c.661-7G>A single nucleotide variant Peters plus syndrome [RCV003495200] Chr13:31274502 [GRCh38]
Chr13:31848639 [GRCh37]
Chr13:13q12.3		 likely benign
NM_194318.4(B3GLCT):c.924C>G (p.Ser308=) single nucleotide variant Peters plus syndrome [RCV000870494] Chr13:31284721 [GRCh38]
Chr13:31858858 [GRCh37]
Chr13:13q12.3		 likely benign
NM_194318.4(B3GLCT):c.39G>C (p.Pro13=) single nucleotide variant Peters plus syndrome [RCV000871804] Chr13:31200123 [GRCh38]
Chr13:31774260 [GRCh37]
Chr13:13q12.3		 benign|conflicting interpretations of pathogenicity
NM_194318.4(B3GLCT):c.744C>T (p.Tyr248=) single nucleotide variant Peters plus syndrome [RCV000893965] Chr13:31274592 [GRCh38]
Chr13:31848729 [GRCh37]
Chr13:13q12.3		 likely benign
NM_194318.4(B3GLCT):c.315A>G (p.Glu105=) single nucleotide variant B3GLCT-related disorder [RCV003978020]|Peters plus syndrome [RCV000918248] Chr13:31247067 [GRCh38]
Chr13:31821204 [GRCh37]
Chr13:13q12.3		 benign|likely benign
NM_194318.4(B3GLCT):c.1185-6C>G single nucleotide variant B3GLCT-related disorder [RCV003930434]|Peters plus syndrome [RCV000876498]|not provided [RCV002064853] Chr13:31323745 [GRCh38]
Chr13:31897882 [GRCh37]
Chr13:13q12.3		 benign|likely benign
NM_194318.4(B3GLCT):c.786G>A (p.Lys262=) single nucleotide variant Peters plus syndrome [RCV001114529] Chr13:31276707 [GRCh38]
Chr13:31850844 [GRCh37]
Chr13:13q12.3		 uncertain significance
NM_194318.4(B3GLCT):c.*637A>G single nucleotide variant Peters plus syndrome [RCV001114630] Chr13:31330305 [GRCh38]
Chr13:31904442 [GRCh37]
Chr13:13q12.3		 benign
NM_194318.4(B3GLCT):c.*1752C>T single nucleotide variant Peters plus syndrome [RCV001114734]|not provided [RCV004693699] Chr13:31331420 [GRCh38]
Chr13:31905557 [GRCh37]
Chr13:13q12.3		 uncertain significance
NM_194318.4(B3GLCT):c.*1836G>A single nucleotide variant Peters plus syndrome [RCV001114736]|not provided [RCV004709025] Chr13:31331504 [GRCh38]
Chr13:31905641 [GRCh37]
Chr13:13q12.3		 benign
NM_194318.4(B3GLCT):c.*1870A>C single nucleotide variant Peters plus syndrome [RCV001114737] Chr13:31331538 [GRCh38]
Chr13:31905675 [GRCh37]
Chr13:13q12.3		 uncertain significance
NM_194318.4(B3GLCT):c.*29G>T single nucleotide variant Peters plus syndrome [RCV001113255]|not provided [RCV001673015] Chr13:31329697 [GRCh38]
Chr13:31329697..31329698 [GRCh38]
Chr13:31903834 [GRCh37]
Chr13:31903834..31903835 [GRCh37]
Chr13:13q12.3		 benign
NM_194318.4(B3GLCT):c.*1516A>G single nucleotide variant Peters plus syndrome [RCV001113358] Chr13:31331184 [GRCh38]
Chr13:31905321 [GRCh37]
Chr13:13q12.3		 benign
NM_194318.4(B3GLCT):c.*2082G>T single nucleotide variant Peters plus syndrome [RCV001114739]|not provided [RCV004707550] Chr13:31331750 [GRCh38]
Chr13:31905887 [GRCh37]
Chr13:13q12.3		 benign
NM_194318.4(B3GLCT):c.1144C>T (p.Leu382=) single nucleotide variant B3GLCT-related disorder [RCV003895453]|Peters plus syndrome [RCV002065574] Chr13:31317645 [GRCh38]
Chr13:31891782 [GRCh37]
Chr13:13q12.3		 likely benign
NM_194318.4(B3GLCT):c.1065-142T>C single nucleotide variant not provided [RCV001689244] Chr13:31317424 [GRCh38]
Chr13:31891561 [GRCh37]
Chr13:13q12.3		 benign
NM_194318.4(B3GLCT):c.347+199dup duplication not provided [RCV001547321] Chr13:31247289..31247290 [GRCh38]
Chr13:31821426..31821427 [GRCh37]
Chr13:13q12.3		 likely benign
NM_194318.4(B3GLCT):c.1483C>T (p.Arg495Ter) single nucleotide variant not provided [RCV002469695] Chr13:31329654 [GRCh38]
Chr13:31903791 [GRCh37]
Chr13:13q12.3		 uncertain significance
NM_194318.4(B3GLCT):c.238dup (p.Ser80fs) duplication not provided [RCV001008598] Chr13:31229254..31229255 [GRCh38]
Chr13:31803391..31803392 [GRCh37]
Chr13:13q12.3		 likely pathogenic
NM_194318.4(B3GLCT):c.781-125G>C single nucleotide variant Peters plus syndrome [RCV001554049]|not provided [RCV001713044] Chr13:31276577 [GRCh38]
Chr13:31850714 [GRCh37]
Chr13:13q12.3		 benign
NM_194318.4(B3GLCT):c.781-34_781-31dup duplication Peters plus syndrome [RCV001554050]|not provided [RCV001655885] Chr13:31276666..31276667 [GRCh38]
Chr13:31850803..31850804 [GRCh37]
Chr13:13q12.3		 benign
NM_194318.4(B3GLCT):c.121-83A>G single nucleotide variant not provided [RCV001643395] Chr13:31222869 [GRCh38]
Chr13:31797006 [GRCh37]
Chr13:13q12.3		 benign
NM_194318.4(B3GLCT):c.661-263A>G single nucleotide variant not provided [RCV001688494] Chr13:31274246 [GRCh38]
Chr13:31848383 [GRCh37]
Chr13:13q12.3		 benign
NM_194318.4(B3GLCT):c.271-38C>T single nucleotide variant not provided [RCV001594323] Chr13:31246985 [GRCh38]
Chr13:31821122 [GRCh37]
Chr13:13q12.3		 likely benign
GRCh37/hg19 13q12.3-13.2(chr13:28925153-34061696)x1 copy number loss not provided [RCV001537908] Chr13:28925153..34061696 [GRCh37]
Chr13:13q12.3-13.2		 pathogenic
NM_194318.4(B3GLCT):c.*889A>G single nucleotide variant Peters plus syndrome [RCV001111342]|not provided [RCV004707541] Chr13:31330557 [GRCh38]
Chr13:31904694 [GRCh37]
Chr13:13q12.3		 benign
NM_194318.4(B3GLCT):c.*970G>C single nucleotide variant Peters plus syndrome [RCV001111344] Chr13:31330638 [GRCh38]
Chr13:31904775 [GRCh37]
Chr13:13q12.3		 likely benign
NM_194318.4(B3GLCT):c.*1197A>T single nucleotide variant Peters plus syndrome [RCV001111345] Chr13:31330865 [GRCh38]
Chr13:31905002 [GRCh37]
Chr13:13q12.3		 benign
NM_194318.4(B3GLCT):c.*1329T>A single nucleotide variant Peters plus syndrome [RCV001111347] Chr13:31330997 [GRCh38]
Chr13:31905134 [GRCh37]
Chr13:13q12.3		 likely benign
NM_194318.4(B3GLCT):c.*2508T>C single nucleotide variant Peters plus syndrome [RCV001111444] Chr13:31332176 [GRCh38]
Chr13:31906313 [GRCh37]
Chr13:13q12.3		 uncertain significance
NM_194318.4(B3GLCT):c.*669G>A single nucleotide variant Peters plus syndrome [RCV001108992] Chr13:31330337 [GRCh38]
Chr13:31904474 [GRCh37]
Chr13:13q12.3		 uncertain significance
NM_194318.4(B3GLCT):c.*813A>G single nucleotide variant Peters plus syndrome [RCV001108997] Chr13:31330481 [GRCh38]
Chr13:31904618 [GRCh37]
Chr13:13q12.3		 uncertain significance
NM_194318.4(B3GLCT):c.*881T>C single nucleotide variant Peters plus syndrome [RCV001108999] Chr13:31330549 [GRCh38]
Chr13:31904686 [GRCh37]
Chr13:13q12.3		 uncertain significance
NM_194318.4(B3GLCT):c.105G>A (p.Glu35=) single nucleotide variant Peters plus syndrome [RCV001113159] Chr13:31215085 [GRCh38]
Chr13:31789222 [GRCh37]
Chr13:13q12.3		 uncertain significance
NM_194318.4(B3GLCT):c.344C>T (p.Pro115Leu) single nucleotide variant Peters plus syndrome [RCV001113164] Chr13:31247096 [GRCh38]
Chr13:31821233 [GRCh37]
Chr13:13q12.3		 uncertain significance
NM_194318.4(B3GLCT):c.1446C>T (p.Asp482=) single nucleotide variant Peters plus syndrome [RCV001113254] Chr13:31329617 [GRCh38]
Chr13:31903754 [GRCh37]
Chr13:13q12.3		 uncertain significance
NM_194318.4(B3GLCT):c.*352A>G single nucleotide variant Peters plus syndrome [RCV001113261] Chr13:31330020 [GRCh38]
Chr13:31904157 [GRCh37]
Chr13:13q12.3		 uncertain significance
NM_194318.4(B3GLCT):c.*1498C>T single nucleotide variant Peters plus syndrome [RCV001113357] Chr13:31331166 [GRCh38]
Chr13:31905303 [GRCh37]
Chr13:13q12.3		 likely benign
NM_194318.4(B3GLCT):c.*1700T>C single nucleotide variant Peters plus syndrome [RCV001113364] Chr13:31331368 [GRCh38]
Chr13:31905505 [GRCh37]
Chr13:13q12.3		 uncertain significance
NC_000013.11:g.(?_31200065)_(31286839_?)dup duplication Peters plus syndrome [RCV001032571] Chr13:31774202..31860976 [GRCh37]
Chr13:13q12.3		 uncertain significance
NM_194318.4(B3GLCT):c.*726C>T single nucleotide variant Peters plus syndrome [RCV001108994] Chr13:31330394 [GRCh38]
Chr13:31904531 [GRCh37]
Chr13:13q12.3		 uncertain significance
NM_194318.4(B3GLCT):c.*2137T>C single nucleotide variant Peters plus syndrome [RCV001109106]|not provided [RCV004707539] Chr13:31331805 [GRCh38]
Chr13:31905942 [GRCh37]
Chr13:13q12.3		 benign
NM_194318.4(B3GLCT):c.*2177T>G single nucleotide variant Peters plus syndrome [RCV001109107] Chr13:31331845 [GRCh38]
Chr13:31905982 [GRCh37]
Chr13:13q12.3		 uncertain significance
NM_194318.4(B3GLCT):c.*2373C>G single nucleotide variant Peters plus syndrome [RCV001109111] Chr13:31332041 [GRCh38]
Chr13:31906178 [GRCh37]
Chr13:13q12.3		 uncertain significance
NM_194318.4(B3GLCT):c.*2446A>G single nucleotide variant Peters plus syndrome [RCV001109112] Chr13:31332114 [GRCh38]
Chr13:31906251 [GRCh37]
Chr13:13q12.3		 benign
NM_194318.4(B3GLCT):c.1027G>T (p.Ala343Ser) single nucleotide variant Peters plus syndrome [RCV001110489] Chr13:31286782 [GRCh38]
Chr13:31860919 [GRCh37]
Chr13:13q12.3		 uncertain significance
NM_194318.4(B3GLCT):c.1102T>G (p.Ser368Ala) single nucleotide variant Peters plus syndrome [RCV001110490] Chr13:31317603 [GRCh38]
Chr13:31891740 [GRCh37]
Chr13:13q12.3		 uncertain significance
NM_194318.4(B3GLCT):c.30C>T (p.Leu10=) single nucleotide variant Peters plus syndrome [RCV001111153] Chr13:31200114 [GRCh38]
Chr13:31774251 [GRCh37]
Chr13:13q12.3		 uncertain significance
NM_194318.4(B3GLCT):c.1161C>T (p.Tyr387=) single nucleotide variant Peters plus syndrome [RCV001111254] Chr13:31317662 [GRCh38]
Chr13:31891799 [GRCh37]
Chr13:13q12.3		 uncertain significance
NM_194318.4(B3GLCT):c.1185-15T>C single nucleotide variant Peters plus syndrome [RCV001111255] Chr13:31323736 [GRCh38]
Chr13:31897873 [GRCh37]
Chr13:13q12.3		 uncertain significance
NM_194318.4(B3GLCT):c.764C>A (p.Ser255Tyr) single nucleotide variant Peters plus syndrome [RCV001069601] Chr13:31274612 [GRCh38]
Chr13:31848749 [GRCh37]
Chr13:13q12.3		 uncertain significance
NM_194318.4(B3GLCT):c.1167C>G (p.Tyr389Ter) single nucleotide variant Peters plus syndrome [RCV001614478] Chr13:31317668 [GRCh38]
Chr13:31891805 [GRCh37]
Chr13:13q12.3		 pathogenic
NM_194318.4(B3GLCT):c.71-6_71-5del deletion not provided [RCV001611540] Chr13:31215033..31215034 [GRCh38]
Chr13:31789170..31789171 [GRCh37]
Chr13:13q12.3		 benign
NM_194318.4(B3GLCT):c.660+83A>G single nucleotide variant not provided [RCV001708893] Chr13:31269360 [GRCh38]
Chr13:31843497 [GRCh37]
Chr13:13q12.3		 benign
NM_194318.4(B3GLCT):c.460-72T>C single nucleotide variant not provided [RCV001709956] Chr13:31260874 [GRCh38]
Chr13:31835011 [GRCh37]
Chr13:13q12.3		 benign
NM_194318.4(B3GLCT):c.661-111G>A single nucleotide variant not provided [RCV001648713] Chr13:31274398 [GRCh38]
Chr13:31848535 [GRCh37]
Chr13:13q12.3		 benign
NM_194318.4(B3GLCT):c.270+4C>T single nucleotide variant Peters plus syndrome [RCV001113162] Chr13:31229298 [GRCh38]
Chr13:31803435 [GRCh37]
Chr13:13q12.3		 uncertain significance
NM_194318.4(B3GLCT):c.347+233A>G single nucleotide variant not provided [RCV001540271] Chr13:31247332 [GRCh38]
Chr13:31821469 [GRCh37]
Chr13:13q12.3		 benign
NM_194318.4(B3GLCT):c.*36A>G single nucleotide variant Peters plus syndrome [RCV001113256]|not provided [RCV001713066] Chr13:31329704 [GRCh38]
Chr13:31903841 [GRCh37]
Chr13:13q12.3		 benign
NM_194318.4(B3GLCT):c.*1698C>T single nucleotide variant Peters plus syndrome [RCV001113363] Chr13:31331366 [GRCh38]
Chr13:31905503 [GRCh37]
Chr13:13q12.3		 uncertain significance
NM_194318.4(B3GLCT):c.335del (p.Pro112fs) deletion Inborn genetic diseases [RCV002573257]|not provided [RCV001579971] Chr13:31247086 [GRCh38]
Chr13:31821223 [GRCh37]
Chr13:13q12.3		 pathogenic
NM_194318.4(B3GLCT):c.347+269A>G single nucleotide variant not provided [RCV001696638] Chr13:31247368 [GRCh38]
Chr13:31821505 [GRCh37]
Chr13:13q12.3		 benign
NM_194318.4(B3GLCT):c.1177G>C (p.Gly393Arg) single nucleotide variant See cases [RCV001195784] Chr13:31317678 [GRCh38]
Chr13:31891815 [GRCh37]
Chr13:13q12.3		 likely pathogenic
NM_194318.4(B3GLCT):c.*158G>A single nucleotide variant Peters plus syndrome [RCV001113258] Chr13:31329826 [GRCh38]
Chr13:31903963 [GRCh37]
Chr13:13q12.3		 uncertain significance
NM_194318.4(B3GLCT):c.466T>A (p.Phe156Ile) single nucleotide variant Peters plus syndrome [RCV001220143] Chr13:31260952 [GRCh38]
Chr13:31835089 [GRCh37]
Chr13:13q12.3		 uncertain significance
NM_194318.4(B3GLCT):c.421A>G (p.Lys141Glu) single nucleotide variant Peters plus syndrome [RCV001114526] Chr13:31247928 [GRCh38]
Chr13:31822065 [GRCh37]
Chr13:13q12.3		 uncertain significance
NM_194318.4(B3GLCT):c.756A>G (p.Thr252=) single nucleotide variant Peters plus syndrome [RCV001114528] Chr13:31274604 [GRCh38]
Chr13:31848741 [GRCh37]
Chr13:13q12.3		 uncertain significance
NM_194318.4(B3GLCT):c.*439T>C single nucleotide variant Peters plus syndrome [RCV001114626] Chr13:31330107 [GRCh38]
Chr13:31904244 [GRCh37]
Chr13:13q12.3		 likely benign
NM_194318.4(B3GLCT):c.*1612A>T single nucleotide variant Peters plus syndrome [RCV001113360] Chr13:31331280 [GRCh38]
Chr13:31905417 [GRCh37]
Chr13:13q12.3		 uncertain significance
NM_194318.4(B3GLCT):c.*1644A>T single nucleotide variant Peters plus syndrome [RCV001113361]|not provided [RCV004709023] Chr13:31331312 [GRCh38]
Chr13:31331312..31331313 [GRCh38]
Chr13:31905449 [GRCh37]
Chr13:31905449..31905450 [GRCh37]
Chr13:13q12.3		 benign
NM_194318.4(B3GLCT):c.*710A>T single nucleotide variant Peters plus syndrome [RCV001108993] Chr13:31330378 [GRCh38]
Chr13:31904515 [GRCh37]
Chr13:13q12.3		 uncertain significance
NM_194318.4(B3GLCT):c.*751A>G single nucleotide variant Peters plus syndrome [RCV001108995] Chr13:31330419 [GRCh38]
Chr13:31904556 [GRCh37]
Chr13:13q12.3		 uncertain significance
NM_194318.4(B3GLCT):c.*815C>T single nucleotide variant Peters plus syndrome [RCV001108998] Chr13:31330483 [GRCh38]
Chr13:31904620 [GRCh37]
Chr13:13q12.3		 uncertain significance
NM_194318.4(B3GLCT):c.*2486T>C single nucleotide variant Peters plus syndrome [RCV001109113]|not provided [RCV004709022] Chr13:31332154 [GRCh38]
Chr13:31906291 [GRCh37]
Chr13:13q12.3		 benign
NM_194318.4(B3GLCT):c.850+151A>G single nucleotide variant Peters plus syndrome [RCV001554208]|not provided [RCV001658288] Chr13:31276922 [GRCh38]
Chr13:31851059 [GRCh37]
Chr13:13q12.3		 benign
NM_194318.4(B3GLCT):c.1372G>A (p.Val458Ile) single nucleotide variant Inborn genetic diseases [RCV003246892]|Peters plus syndrome [RCV001333708] Chr13:31329543 [GRCh38]
Chr13:31903680 [GRCh37]
Chr13:13q12.3		 uncertain significance
NM_194318.4(B3GLCT):c.1184+3A>G single nucleotide variant Peters plus syndrome [RCV001269474] Chr13:31317688 [GRCh38]
Chr13:31891825 [GRCh37]
Chr13:13q12.3		 uncertain significance
GRCh37/hg19 13p13-q34(chr13:1-115169878) copy number gain Complete trisomy 13 syndrome [RCV002280659] Chr13:1..115169878 [GRCh37]
Chr13:13p13-q34		 pathogenic
NM_194318.4(B3GLCT):c.1487A>G (p.Glu496Gly) single nucleotide variant Peters plus syndrome [RCV001370570] Chr13:31329658 [GRCh38]
Chr13:31903795 [GRCh37]
Chr13:13q12.3		 uncertain significance
NM_194318.4(B3GLCT):c.348-1G>A single nucleotide variant Peters plus syndrome [RCV001334728] Chr13:31247854 [GRCh38]
Chr13:31821991 [GRCh37]
Chr13:13q12.3		 pathogenic
NM_194318.4(B3GLCT):c.597-23del deletion Peters plus syndrome [RCV001554047]|not provided [RCV001655884] Chr13:31269184 [GRCh38]
Chr13:31843321 [GRCh37]
Chr13:13q12.3		 benign
NM_194318.4(B3GLCT):c.596+156G>A single nucleotide variant not provided [RCV001688257] Chr13:31261238 [GRCh38]
Chr13:31835375 [GRCh37]
Chr13:13q12.3		 benign
NM_194318.4(B3GLCT):c.271-67T>C single nucleotide variant not provided [RCV001690599] Chr13:31246956 [GRCh38]
Chr13:31821093 [GRCh37]
Chr13:13q12.3		 benign
NM_194318.4(B3GLCT):c.965-88G>C single nucleotide variant not provided [RCV001617137] Chr13:31286632 [GRCh38]
Chr13:31860769 [GRCh37]
Chr13:13q12.3		 benign
NM_194318.4(B3GLCT):c.660+212A>G single nucleotide variant not provided [RCV001715809] Chr13:31269489 [GRCh38]
Chr13:31843626 [GRCh37]
Chr13:13q12.3		 benign
NM_194318.4(B3GLCT):c.170G>C (p.Gly57Ala) single nucleotide variant Peters plus syndrome [RCV001486598] Chr13:31229194 [GRCh38]
Chr13:31803331 [GRCh37]
Chr13:13q12.3		 likely benign
NM_194318.4(B3GLCT):c.1173G>A (p.Thr391=) single nucleotide variant Peters plus syndrome [RCV001478189] Chr13:31317674 [GRCh38]
Chr13:31891811 [GRCh37]
Chr13:13q12.3		 likely benign
GRCh37/hg19 13p13-q34(chr13:1-115169878)x3 copy number gain See cases [RCV001780076] Chr13:1..115169878 [GRCh37]
Chr13:13p13-q34		 pathogenic
NM_194318.4(B3GLCT):c.101_104del (p.Lys34fs) microsatellite Peters plus syndrome [RCV001780756] Chr13:31215076..31215079 [GRCh38]
Chr13:31789213..31789216 [GRCh37]
Chr13:13q12.3		 pathogenic
NM_194318.4(B3GLCT):c.1140C>A (p.Tyr380Ter) single nucleotide variant B3GLCT-related disorder [RCV003401733]|Peters plus syndrome [RCV003136172]|not provided [RCV001815994] Chr13:31317641 [GRCh38]
Chr13:31891778 [GRCh37]
Chr13:13q12.3		 pathogenic|likely pathogenic
NM_194318.4(B3GLCT):c.1045G>A (p.Asp349Asn) single nucleotide variant not provided [RCV001816567] Chr13:31286800 [GRCh38]
Chr13:31860937 [GRCh37]
Chr13:13q12.3		 likely pathogenic
NM_194318.4(B3GLCT):c.716A>G (p.Glu239Gly) single nucleotide variant Peters plus syndrome [RCV002024998] Chr13:31274564 [GRCh38]
Chr13:31848701 [GRCh37]
Chr13:13q12.3		 uncertain significance
NM_194318.4(B3GLCT):c.504A>G (p.Ile168Met) single nucleotide variant Inborn genetic diseases [RCV002554157]|Peters plus syndrome [RCV001892974] Chr13:31260990 [GRCh38]
Chr13:31835127 [GRCh37]
Chr13:13q12.3		 uncertain significance
NM_194318.4(B3GLCT):c.270+15C>G single nucleotide variant Peters plus syndrome [RCV002006952] Chr13:31229309 [GRCh38]
Chr13:31803446 [GRCh37]
Chr13:13q12.3		 uncertain significance
NM_194318.4(B3GLCT):c.1330-3C>T single nucleotide variant Peters plus syndrome [RCV001950005] Chr13:31329498 [GRCh38]
Chr13:31903635 [GRCh37]
Chr13:13q12.3		 uncertain significance
NM_194318.4(B3GLCT):c.1451A>G (p.Asp484Gly) single nucleotide variant Peters plus syndrome [RCV001909293] Chr13:31329622 [GRCh38]
Chr13:31903759 [GRCh37]
Chr13:13q12.3		 uncertain significance
GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3 copy number gain not provided [RCV001834436] Chr13:19436286..115107733 [GRCh37]
Chr13:13q11-34		 pathogenic
GRCh37/hg19 13q11-34(chr13:19436286-115107733) copy number gain not specified [RCV002053036] Chr13:19436286..115107733 [GRCh37]
Chr13:13q11-34		 pathogenic
GRCh38/hg38 13q12.3(chr13:30194283-31591879) copy number loss Diaphragmatic hernia [RCV001823064] Chr13:30194283..31591879 [GRCh38]
Chr13:13q12.3		 uncertain significance
NM_194318.4(B3GLCT):c.1064+5G>T single nucleotide variant Peters plus syndrome [RCV001926684] Chr13:31286824 [GRCh38]
Chr13:31860961 [GRCh37]
Chr13:13q12.3		 uncertain significance
NM_194318.4(B3GLCT):c.28C>T (p.Leu10Phe) single nucleotide variant Peters plus syndrome [RCV001984078] Chr13:31200112 [GRCh38]
Chr13:31774249 [GRCh37]
Chr13:13q12.3		 uncertain significance
NM_194318.4(B3GLCT):c.1347C>A (p.Tyr449Ter) single nucleotide variant Peters plus syndrome [RCV002005081] Chr13:31329518 [GRCh38]
Chr13:31903655 [GRCh37]
Chr13:13q12.3		 uncertain significance
NM_194318.4(B3GLCT):c.694C>G (p.Pro232Ala) single nucleotide variant Peters plus syndrome [RCV002041364] Chr13:31274542 [GRCh38]
Chr13:31848679 [GRCh37]
Chr13:13q12.3		 uncertain significance
NM_194318.4(B3GLCT):c.335C>T (p.Pro112Leu) single nucleotide variant Peters plus syndrome [RCV001907903] Chr13:31247087 [GRCh38]
Chr13:31821224 [GRCh37]
Chr13:13q12.3		 uncertain significance
NM_194318.4(B3GLCT):c.1318C>G (p.Leu440Val) single nucleotide variant Peters plus syndrome [RCV002042226] Chr13:31323884 [GRCh38]
Chr13:31898021 [GRCh37]
Chr13:13q12.3		 uncertain significance
GRCh37/hg19 13q11-34(chr13:19436286-114981726) copy number gain not specified [RCV002053035] Chr13:19436286..114981726 [GRCh37]
Chr13:13q11-34		 pathogenic
NM_194318.4(B3GLCT):c.256G>T (p.Ala86Ser) single nucleotide variant Peters plus syndrome [RCV001956920] Chr13:31229280 [GRCh38]
Chr13:31803417 [GRCh37]
Chr13:13q12.3		 uncertain significance
NM_194318.4(B3GLCT):c.673A>G (p.Ile225Val) single nucleotide variant Peters plus syndrome [RCV001977741] Chr13:31274521 [GRCh38]
Chr13:31848658 [GRCh37]
Chr13:13q12.3		 uncertain significance
NM_194318.4(B3GLCT):c.17G>A (p.Cys6Tyr) single nucleotide variant Peters plus syndrome [RCV002028662] Chr13:31200101 [GRCh38]
Chr13:31774238 [GRCh37]
Chr13:13q12.3		 uncertain significance
NM_194318.4(B3GLCT):c.856A>G (p.Ile286Val) single nucleotide variant Peters plus syndrome [RCV001867852] Chr13:31284653 [GRCh38]
Chr13:31858790 [GRCh37]
Chr13:13q12.3		 uncertain significance
NM_194318.4(B3GLCT):c.704C>T (p.Thr235Ile) single nucleotide variant Inborn genetic diseases [RCV003161178]|Peters plus syndrome [RCV002009552] Chr13:31274552 [GRCh38]
Chr13:31848689 [GRCh37]
Chr13:13q12.3		 uncertain significance
NM_194318.4(B3GLCT):c.1370A>G (p.Gln457Arg) single nucleotide variant Peters plus syndrome [RCV001900868] Chr13:31329541 [GRCh38]
Chr13:31903678 [GRCh37]
Chr13:13q12.3		 uncertain significance
NC_000013.10:g.(?_31774222)_(31860976_?)dup duplication Peters plus syndrome [RCV002029530] Chr13:31774222..31860976 [GRCh37]
Chr13:13q12.3		 uncertain significance
NM_194318.4(B3GLCT):c.1404C>T (p.Ile468=) single nucleotide variant Peters plus syndrome [RCV002126894] Chr13:31329575 [GRCh38]
Chr13:31903712 [GRCh37]
Chr13:13q12.3		 likely benign
NM_194318.4(B3GLCT):c.781-12del deletion Peters plus syndrome [RCV002168890] Chr13:31276687 [GRCh38]
Chr13:31850824 [GRCh37]
Chr13:13q12.3		 benign
NM_194318.4(B3GLCT):c.336G>A (p.Pro112=) single nucleotide variant Peters plus syndrome [RCV002107256] Chr13:31247088 [GRCh38]
Chr13:31821225 [GRCh37]
Chr13:13q12.3		 likely benign
NM_194318.4(B3GLCT):c.596+10T>C single nucleotide variant Peters plus syndrome [RCV002188911] Chr13:31261092 [GRCh38]
Chr13:31835229 [GRCh37]
Chr13:13q12.3		 likely benign
NM_194318.4(B3GLCT):c.537A>C (p.Thr179=) single nucleotide variant Peters plus syndrome [RCV002145042] Chr13:31261023 [GRCh38]
Chr13:31835160 [GRCh37]
Chr13:13q12.3		 likely benign
NM_194318.4(B3GLCT):c.348-8T>C single nucleotide variant Peters plus syndrome [RCV002151403] Chr13:31247847 [GRCh38]
Chr13:31821984 [GRCh37]
Chr13:13q12.3		 likely benign
NM_194318.4(B3GLCT):c.1065-19G>T single nucleotide variant Peters plus syndrome [RCV002075632]|not provided [RCV004704721] Chr13:31317547 [GRCh38]
Chr13:31891684 [GRCh37]
Chr13:13q12.3		 likely benign
NM_194318.4(B3GLCT):c.460-10del deletion Peters plus syndrome [RCV002204651] Chr13:31260934 [GRCh38]
Chr13:31835071 [GRCh37]
Chr13:13q12.3		 likely benign
NM_194318.4(B3GLCT):c.297T>C (p.His99=) single nucleotide variant Peters plus syndrome [RCV002202899] Chr13:31247049 [GRCh38]
Chr13:31821186 [GRCh37]
Chr13:13q12.3		 likely benign
NM_194318.4(B3GLCT):c.347+15C>T single nucleotide variant Peters plus syndrome [RCV002157135] Chr13:31247114 [GRCh38]
Chr13:31821251 [GRCh37]
Chr13:13q12.3		 likely benign
NM_194318.4(B3GLCT):c.160+19T>A single nucleotide variant Peters plus syndrome [RCV002119278] Chr13:31223010 [GRCh38]
Chr13:31797147 [GRCh37]
Chr13:13q12.3		 likely benign
NC_000013.10:g.(?_31835063)_(31835239_?)del deletion Peters plus syndrome [RCV003113955] Chr13:31835063..31835239 [GRCh37]
Chr13:13q12.3		 pathogenic
NC_000013.10:g.(?_31033232)_(33638323_?)dup duplication not provided [RCV003113598] Chr13:31033232..33638323 [GRCh37]
Chr13:13q12.3-13.1		 uncertain significance
NM_194318.4(B3GLCT):c.289C>T (p.Leu97Phe) single nucleotide variant Peters plus syndrome [RCV003121126] Chr13:31247041 [GRCh38]
Chr13:31821178 [GRCh37]
Chr13:13q12.3		 uncertain significance
NM_194318.4(B3GLCT):c.206_207del (p.Phe69fs) deletion Peters plus syndrome [RCV004797139] Chr13:31229228..31229229 [GRCh38]
Chr13:31803365..31803366 [GRCh37]
Chr13:13q12.3		 likely pathogenic
NM_194318.4(B3GLCT):c.1184+1G>A single nucleotide variant Peters plus syndrome [RCV002266213] Chr13:31317686 [GRCh38]
Chr13:31891823 [GRCh37]
Chr13:13q12.3		 likely pathogenic
GRCh37/hg19 13q11-34(chr13:19253848-115108937)x3 copy number gain not provided [RCV002291540] Chr13:19253848..115108937 [GRCh37]
Chr13:13q11-34		 pathogenic
NM_194318.4(B3GLCT):c.42G>A (p.Ala14=) single nucleotide variant not provided [RCV002262417] Chr13:31200126 [GRCh38]
Chr13:31774263 [GRCh37]
Chr13:13q12.3		 likely benign
NM_194318.4(B3GLCT):c.1235G>A (p.Arg412Gln) single nucleotide variant Inborn genetic diseases [RCV002727650] Chr13:31323801 [GRCh38]
Chr13:31897938 [GRCh37]
Chr13:13q12.3		 uncertain significance
NM_194318.4(B3GLCT):c.1324C>T (p.His442Tyr) single nucleotide variant Peters plus syndrome [RCV002862819] Chr13:31323890 [GRCh38]
Chr13:31898027 [GRCh37]
Chr13:13q12.3		 uncertain significance
NM_194318.4(B3GLCT):c.688G>A (p.Gly230Arg) single nucleotide variant Inborn genetic diseases [RCV002907551] Chr13:31274536 [GRCh38]
Chr13:31848673 [GRCh37]
Chr13:13q12.3		 uncertain significance
NM_194318.4(B3GLCT):c.120+10C>A single nucleotide variant Peters plus syndrome [RCV002971251] Chr13:31215110 [GRCh38]
Chr13:31789247 [GRCh37]
Chr13:13q12.3		 likely benign
NM_194318.4(B3GLCT):c.463T>C (p.Trp155Arg) single nucleotide variant not provided [RCV002462641] Chr13:31260949 [GRCh38]
Chr13:31835086 [GRCh37]
Chr13:13q12.3		 uncertain significance
NM_194318.4(B3GLCT):c.621A>T (p.Glu207Asp) single nucleotide variant Inborn genetic diseases [RCV002818713] Chr13:31269238 [GRCh38]
Chr13:31843375 [GRCh37]
Chr13:13q12.3		 uncertain significance
NM_194318.4(B3GLCT):c.70+14G>A single nucleotide variant Peters plus syndrome [RCV002996540] Chr13:31200168 [GRCh38]
Chr13:31774305 [GRCh37]
Chr13:13q12.3		 likely benign
NM_194318.4(B3GLCT):c.856A>T (p.Ile286Phe) single nucleotide variant Inborn genetic diseases [RCV002750818]|Peters plus syndrome [RCV002774882] Chr13:31284653 [GRCh38]
Chr13:31858790 [GRCh37]
Chr13:13q12.3		 uncertain significance
NM_194318.4(B3GLCT):c.1258G>A (p.Asp420Asn) single nucleotide variant Inborn genetic diseases [RCV002849600] Chr13:31323824 [GRCh38]
Chr13:31897961 [GRCh37]
Chr13:13q12.3		 uncertain significance
NM_194318.4(B3GLCT):c.1015C>T (p.Gln339Ter) single nucleotide variant Peters plus syndrome [RCV002979352] Chr13:31286770 [GRCh38]
Chr13:31860907 [GRCh37]
Chr13:13q12.3		 pathogenic
NM_194318.4(B3GLCT):c.1172C>T (p.Thr391Met) single nucleotide variant Inborn genetic diseases [RCV002707597] Chr13:31317673 [GRCh38]
Chr13:31891810 [GRCh37]
Chr13:13q12.3		 uncertain significance
NM_194318.4(B3GLCT):c.95C>A (p.Thr32Lys) single nucleotide variant Inborn genetic diseases [RCV002868651] Chr13:31215075 [GRCh38]
Chr13:31789212 [GRCh37]
Chr13:13q12.3		 uncertain significance
NM_194318.4(B3GLCT):c.1334G>A (p.Arg445Gln) single nucleotide variant Peters plus syndrome [RCV002923908] Chr13:31329505 [GRCh38]
Chr13:31903642 [GRCh37]
Chr13:13q12.3		 uncertain significance
NM_194318.4(B3GLCT):c.114G>C (p.Gln38His) single nucleotide variant Inborn genetic diseases [RCV002845698] Chr13:31215094 [GRCh38]
Chr13:31789231 [GRCh37]
Chr13:13q12.3		 uncertain significance
NM_194318.4(B3GLCT):c.799A>G (p.Lys267Glu) single nucleotide variant Inborn genetic diseases [RCV002788714] Chr13:31276720 [GRCh38]
Chr13:31850857 [GRCh37]
Chr13:13q12.3		 likely benign
NM_194318.4(B3GLCT):c.172A>G (p.Ile58Val) single nucleotide variant Inborn genetic diseases [RCV002768646] Chr13:31229196 [GRCh38]
Chr13:31803333 [GRCh37]
Chr13:13q12.3		 uncertain significance
NM_194318.4(B3GLCT):c.743A>C (p.Tyr248Ser) single nucleotide variant Inborn genetic diseases [RCV002697936] Chr13:31274591 [GRCh38]
Chr13:31848728 [GRCh37]
Chr13:13q12.3		 uncertain significance
GRCh37/hg19 13q12.3-13.3(chr13:31841196-36667007)x3 copy number gain not provided [RCV002508995] Chr13:31841196..36667007 [GRCh37]
Chr13:13q12.3-13.3		 not provided
NM_194318.4(B3GLCT):c.496G>A (p.Ala166Thr) single nucleotide variant Peters plus syndrome [RCV002575014] Chr13:31260982 [GRCh38]
Chr13:31835119 [GRCh37]
Chr13:13q12.3		 uncertain significance
NM_194318.4(B3GLCT):c.35_52del (p.Pro12_Ala17del) deletion Peters plus syndrome [RCV003022218] Chr13:31200108..31200125 [GRCh38]
Chr13:31774245..31774262 [GRCh37]
Chr13:13q12.3		 uncertain significance
NM_194318.4(B3GLCT):c.938A>T (p.Asp313Val) single nucleotide variant Inborn genetic diseases [RCV002955047] Chr13:31284735 [GRCh38]
Chr13:31858872 [GRCh37]
Chr13:13q12.3		 uncertain significance
NM_194318.4(B3GLCT):c.113A>G (p.Gln38Arg) single nucleotide variant Inborn genetic diseases [RCV002652037] Chr13:31215093 [GRCh38]
Chr13:31789230 [GRCh37]
Chr13:13q12.3		 uncertain significance
NM_194318.4(B3GLCT):c.61T>G (p.Cys21Gly) single nucleotide variant Inborn genetic diseases [RCV002940641] Chr13:31200145 [GRCh38]
Chr13:31774282 [GRCh37]
Chr13:13q12.3		 uncertain significance
NM_194318.4(B3GLCT):c.1405G>A (p.Asp469Asn) single nucleotide variant Peters plus syndrome [RCV002933848] Chr13:31329576 [GRCh38]
Chr13:31903713 [GRCh37]
Chr13:13q12.3		 uncertain significance
NM_194318.4(B3GLCT):c.239G>A (p.Ser80Asn) single nucleotide variant Inborn genetic diseases [RCV002719908] Chr13:31229263 [GRCh38]
Chr13:31803400 [GRCh37]
Chr13:13q12.3		 uncertain significance
NM_194318.4(B3GLCT):c.851-1G>T single nucleotide variant Peters plus syndrome [RCV002857528] Chr13:31284647 [GRCh38]
Chr13:31858784 [GRCh37]
Chr13:13q12.3		 likely pathogenic
NM_194318.4(B3GLCT):c.705C>T (p.Thr235=) single nucleotide variant Peters plus syndrome [RCV002900455] Chr13:31274553 [GRCh38]
Chr13:31848690 [GRCh37]
Chr13:13q12.3		 likely benign
NM_194318.4(B3GLCT):c.1221C>T (p.Leu407=) single nucleotide variant Peters plus syndrome [RCV002922759] Chr13:31323787 [GRCh38]
Chr13:31897924 [GRCh37]
Chr13:13q12.3		 likely benign
NM_194318.4(B3GLCT):c.434C>T (p.Thr145Ile) single nucleotide variant Peters plus syndrome [RCV002599065] Chr13:31247941 [GRCh38]
Chr13:31822078 [GRCh37]
Chr13:13q12.3		 uncertain significance
NM_194318.4(B3GLCT):c.1299C>A (p.Ile433=) single nucleotide variant Peters plus syndrome [RCV002654575] Chr13:31323865 [GRCh38]
Chr13:31898002 [GRCh37]
Chr13:13q12.3		 likely benign
NM_194318.4(B3GLCT):c.273G>A (p.Glu91=) single nucleotide variant Peters plus syndrome [RCV002610097] Chr13:31247025 [GRCh38]
Chr13:31821162 [GRCh37]
Chr13:13q12.3		 likely benign
NM_194318.4(B3GLCT):c.903T>C (p.Tyr301=) single nucleotide variant Peters plus syndrome [RCV002610938] Chr13:31284700 [GRCh38]
Chr13:31858837 [GRCh37]
Chr13:13q12.3		 likely benign
NM_194318.4(B3GLCT):c.712C>T (p.Pro238Ser) single nucleotide variant Inborn genetic diseases [RCV003220070] Chr13:31274560 [GRCh38]
Chr13:31848697 [GRCh37]
Chr13:13q12.3		 uncertain significance
NM_194318.4(B3GLCT):c.732C>T (p.Asp244=) single nucleotide variant not provided [RCV003222785] Chr13:31274580 [GRCh38]
Chr13:31848717 [GRCh37]
Chr13:13q12.3		 likely benign
NM_194318.4(B3GLCT):c.881_889del (p.Gln294_Ser296del) deletion Peters plus syndrome [RCV003140521] Chr13:31284677..31284685 [GRCh38]
Chr13:31858814..31858822 [GRCh37]
Chr13:13q12.3		 uncertain significance
NM_194318.4(B3GLCT):c.1323C>G (p.Phe441Leu) single nucleotide variant Inborn genetic diseases [RCV003378239] Chr13:31323889 [GRCh38]
Chr13:31898026 [GRCh37]
Chr13:13q12.3		 uncertain significance
NM_194318.4(B3GLCT):c.1390A>C (p.Lys464Gln) single nucleotide variant B3GLCT-related disorder [RCV003393067] Chr13:31329561 [GRCh38]
Chr13:31903698 [GRCh37]
Chr13:13q12.3		 uncertain significance
GRCh37/hg19 13q12.3(chr13:31607186-31786055)x3 copy number gain not provided [RCV003484894] Chr13:31607186..31786055 [GRCh37]
Chr13:13q12.3		 uncertain significance
NM_194318.4(B3GLCT):c.1194C>T (p.Phe398=) single nucleotide variant not provided [RCV003390352] Chr13:31323760 [GRCh38]
Chr13:31897897 [GRCh37]
Chr13:13q12.3		 likely benign
NM_194318.4(B3GLCT):c.525C>T (p.Ser175=) single nucleotide variant not provided [RCV003392192] Chr13:31261011 [GRCh38]
Chr13:31835148 [GRCh37]
Chr13:13q12.3		 likely benign
NM_194318.4(B3GLCT):c.1302T>C (p.Pro434=) single nucleotide variant not provided [RCV003392193] Chr13:31323868 [GRCh38]
Chr13:31898005 [GRCh37]
Chr13:13q12.3		 likely benign
NM_194318.4(B3GLCT):c.774G>A (p.Pro258=) single nucleotide variant Peters plus syndrome [RCV003600306] Chr13:31274622 [GRCh38]
Chr13:31848759 [GRCh37]
Chr13:13q12.3		 likely benign
NM_194318.4(B3GLCT):c.1191C>T (p.Val397=) single nucleotide variant Peters plus syndrome [RCV003601124] Chr13:31323757 [GRCh38]
Chr13:31897894 [GRCh37]
Chr13:13q12.3		 likely benign
NM_194318.4(B3GLCT):c.1330-15C>G single nucleotide variant Peters plus syndrome [RCV003601080] Chr13:31329486 [GRCh38]
Chr13:31903623 [GRCh37]
Chr13:13q12.3		 likely benign
NM_194318.4(B3GLCT):c.1330-19CT[2] microsatellite Peters plus syndrome [RCV003495949] Chr13:31329482..31329483 [GRCh38]
Chr13:31903619..31903620 [GRCh37]
Chr13:13q12.3		 likely benign
NM_194318.4(B3GLCT):c.1140C>T (p.Tyr380=) single nucleotide variant Peters plus syndrome [RCV003496618] Chr13:31317641 [GRCh38]
Chr13:31891778 [GRCh37]
Chr13:13q12.3		 likely benign
NM_194318.4(B3GLCT):c.738C>T (p.Asp246=) single nucleotide variant Peters plus syndrome [RCV003494930] Chr13:31274586 [GRCh38]
Chr13:31848723 [GRCh37]
Chr13:13q12.3		 likely benign
NM_194318.4(B3GLCT):c.71-1G>T single nucleotide variant Peters plus syndrome [RCV003494913] Chr13:31215050 [GRCh38]
Chr13:31789187 [GRCh37]
Chr13:13q12.3		 likely pathogenic
NM_194318.4(B3GLCT):c.161-1G>T single nucleotide variant Peters plus syndrome [RCV003496868] Chr13:31229184 [GRCh38]
Chr13:31803321 [GRCh37]
Chr13:13q12.3		 likely pathogenic
NM_194318.4(B3GLCT):c.585A>G (p.Pro195=) single nucleotide variant Peters plus syndrome [RCV003497106] Chr13:31261071 [GRCh38]
Chr13:31835208 [GRCh37]
Chr13:13q12.3		 likely benign
NM_194318.4(B3GLCT):c.1185-6C>A single nucleotide variant Peters plus syndrome [RCV003496736] Chr13:31323745 [GRCh38]
Chr13:31897882 [GRCh37]
Chr13:13q12.3		 likely benign
NM_194318.4(B3GLCT):c.1206C>T (p.Ala402=) single nucleotide variant Peters plus syndrome [RCV003496962] Chr13:31323772 [GRCh38]
Chr13:31897909 [GRCh37]
Chr13:13q12.3		 likely benign
NM_194318.4(B3GLCT):c.1330-18T>C single nucleotide variant Peters plus syndrome [RCV003497019] Chr13:31329483 [GRCh38]
Chr13:31903620 [GRCh37]
Chr13:13q12.3		 likely benign
NM_194318.4(B3GLCT):c.1338G>A (p.Pro446=) single nucleotide variant Peters plus syndrome [RCV003864878] Chr13:31329509 [GRCh38]
Chr13:31903646 [GRCh37]
Chr13:13q12.3		 likely benign
NM_194318.4(B3GLCT):c.71-5_71-4del deletion Peters plus syndrome [RCV003870191] Chr13:31215046..31215047 [GRCh38]
Chr13:31789183..31789184 [GRCh37]
Chr13:13q12.3		 likely benign
GRCh37/hg19 13q11-13.3(chr13:19436287-36278224)x3 copy number gain not provided [RCV004442747] Chr13:19436287..36278224 [GRCh37]
Chr13:13q11-13.3		 uncertain significance
NM_194318.4(B3GLCT):c.511C>T (p.His171Tyr) single nucleotide variant Inborn genetic diseases [RCV004423471] Chr13:31260997 [GRCh38]
Chr13:31835134 [GRCh37]
Chr13:13q12.3		 uncertain significance
NM_194318.4(B3GLCT):c.1130G>A (p.Arg377His) single nucleotide variant Inborn genetic diseases [RCV004423467] Chr13:31317631 [GRCh38]
Chr13:31891768 [GRCh37]
Chr13:13q12.3		 uncertain significance
NM_194318.4(B3GLCT):c.803A>G (p.Asp268Gly) single nucleotide variant Inborn genetic diseases [RCV004423472] Chr13:31276724 [GRCh38]
Chr13:31850861 [GRCh37]
Chr13:13q12.3		 uncertain significance
NM_194318.4(B3GLCT):c.874G>A (p.Glu292Lys) single nucleotide variant Inborn genetic diseases [RCV004423473] Chr13:31284671 [GRCh38]
Chr13:31858808 [GRCh37]
Chr13:13q12.3		 uncertain significance
NM_194318.4(B3GLCT):c.291C>A (p.Leu97=) single nucleotide variant not provided [RCV003993407] Chr13:31247043 [GRCh38]
Chr13:31821180 [GRCh37]
Chr13:13q12.3		 likely benign
NM_194318.4(B3GLCT):c.320C>G (p.Ala107Gly) single nucleotide variant Inborn genetic diseases [RCV004423469] Chr13:31247072 [GRCh38]
Chr13:31821209 [GRCh37]
Chr13:13q12.3		 uncertain significance
NM_194318.4(B3GLCT):c.32C>A (p.Ala11Glu) single nucleotide variant Inborn genetic diseases [RCV004423470] Chr13:31200116 [GRCh38]
Chr13:31774253 [GRCh37]
Chr13:13q12.3		 uncertain significance
NM_194318.4(B3GLCT):c.578G>A (p.Ser193Asn) single nucleotide variant Peters plus syndrome [RCV003990390] Chr13:31261064 [GRCh38]
Chr13:31835201 [GRCh37]
Chr13:13q12.3		 likely pathogenic
NM_194318.4(B3GLCT):c.1053T>C (p.Asp351=) single nucleotide variant B3GLCT-related disorder [RCV003969697] Chr13:31286808 [GRCh38]
Chr13:31860945 [GRCh37]
Chr13:13q12.3		 likely benign
GRCh37/hg19 13q12.3-13.1(chr13:29933399-32792968)x3 copy number gain not provided [RCV003885456] Chr13:29933399..32792968 [GRCh37]
Chr13:13q12.3-13.1		 uncertain significance
NM_194318.4(B3GLCT):c.1311C>G (p.His437Gln) single nucleotide variant Inborn genetic diseases [RCV004599869] Chr13:31323877 [GRCh38]
Chr13:31898014 [GRCh37]
Chr13:13q12.3		 uncertain significance
NM_194318.4(B3GLCT):c.686G>T (p.Gly229Val) single nucleotide variant Inborn genetic diseases [RCV004599879] Chr13:31274534 [GRCh38]
Chr13:31848671 [GRCh37]
Chr13:13q12.3		 uncertain significance
NM_194318.4(B3GLCT):c.686G>A (p.Gly229Asp) single nucleotide variant not provided [RCV004768115] Chr13:31274534 [GRCh38]
Chr13:31848671 [GRCh37]
Chr13:13q12.3		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:971
Count of miRNA genes:627
Interacting mature miRNAs:694
Transcripts:ENST00000343307, ENST00000461652
Prediction methods:Microtar, 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
407099235GWAS748211_Hunipolar depression QTL GWAS748211 (human)9e-10unipolar depression133132610831326109Human
407171968GWAS820944_Hunipolar depression QTL GWAS820944 (human)0.0000002unipolar depression133132839831328399Human
407028855GWAS677831_Hage-related macular degeneration QTL GWAS677831 (human)2e-08age-related macular degeneration133124518831245189Human
596972064GWAS1091583_Hmajor depressive disorder QTL GWAS1091583 (human)3e-09major depressive disorder133127318731273188Human
407214563GWAS863539_Hunipolar depression QTL GWAS863539 (human)2e-10unipolar depression133132839831328399Human
596974221GWAS1093740_Hmajor depressive disorder QTL GWAS1093740 (human)9e-10major depressive disorder133132610831326109Human
596974509GWAS1094028_Hmajor depressive disorder QTL GWAS1094028 (human)0.0000002major depressive disorder133132839831328399Human
406918712GWAS567688_Hrisk-taking behaviour QTL GWAS567688 (human)1e-09risk-taking behaviour133124525431245255Human
406942312GWAS591288_Hheel bone mineral density QTL GWAS591288 (human)3e-08heel bone mineral densitybone mineral density (CMO:0001226)133131490331314904Human
596973609GWAS1093128_Hmajor depressive disorder QTL GWAS1093128 (human)2e-10major depressive disorder133132839831328399Human
406989277GWAS638253_Hunipolar depression QTL GWAS638253 (human)3e-09unipolar depression133127318731273188Human

Markers in Region
RH92545  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371331,903,841 - 31,903,991UniSTSGRCh37
Build 361330,801,841 - 30,801,991RGDNCBI36
Celera1312,971,454 - 12,971,604RGD
Cytogenetic Map13q12.3UniSTS
HuRef1312,714,989 - 12,715,139UniSTS
GeneMap99-GB4 RH Map1395.0UniSTS
RH25845  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371331,904,185 - 31,904,345UniSTSGRCh37
Build 361330,802,185 - 30,802,345RGDNCBI36
Celera1312,971,798 - 12,971,958RGD
Cytogenetic Map13q12.3UniSTS
HuRef1312,715,333 - 12,715,493UniSTS
RH92639  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371331,906,173 - 31,906,292UniSTSGRCh37
Build 361330,804,173 - 30,804,292RGDNCBI36
Celera1312,973,780 - 12,973,899RGD
Cytogenetic Map13q12.3UniSTS
HuRef1312,717,315 - 12,717,434UniSTS
GeneMap99-GB4 RH Map1391.84UniSTS
RH92132  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371331,904,716 - 31,904,795UniSTSGRCh37
Build 361330,802,716 - 30,802,795RGDNCBI36
Celera1312,972,330 - 12,972,409RGD
Cytogenetic Map13q12.3UniSTS
HuRef1312,715,865 - 12,715,944UniSTS
GeneMap99-GB4 RH Map1386.3UniSTS
D13S664E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371331,906,173 - 31,906,370UniSTSGRCh37
Build 361330,804,173 - 30,804,370RGDNCBI36
Celera1312,973,780 - 12,973,977RGD
Cytogenetic Map13q12.3UniSTS
HuRef1312,717,315 - 12,717,512UniSTS
SHGC-147825  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371331,848,550 - 31,848,836UniSTSGRCh37
Build 361330,746,550 - 30,746,836RGDNCBI36
Celera1312,916,289 - 12,916,575RGD
Cytogenetic Map13q12.3UniSTS
HuRef1312,659,913 - 12,660,199UniSTS
TNG Radiation Hybrid Map136708.0UniSTS
RH48618  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371331,816,769 - 31,816,893UniSTSGRCh37
Build 361330,714,769 - 30,714,893RGDNCBI36
Celera1312,884,507 - 12,884,631RGD
Cytogenetic Map13q12.3UniSTS
HuRef1312,628,124 - 12,628,248UniSTS
GeneMap99-GB4 RH Map1386.3UniSTS
NCBI RH Map13276.7UniSTS
D13S1729  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371331,782,045 - 31,782,299UniSTSGRCh37
Build 361330,680,045 - 30,680,299RGDNCBI36
Celera1312,849,781 - 12,850,035RGD
HuRef1312,593,397 - 12,593,651UniSTS
D13S1750  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371331,805,955 - 31,806,229UniSTSGRCh37
Build 361330,703,955 - 30,704,229RGDNCBI36
Celera1312,873,692 - 12,873,966RGD
HuRef1312,617,309 - 12,617,583UniSTS
D13S1780  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371331,869,205 - 31,869,338UniSTSGRCh37
Build 361330,767,205 - 30,767,338RGDNCBI36
Celera1312,936,947 - 12,937,080RGD
HuRef1312,680,570 - 12,680,703UniSTS
D13S1793  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371331,841,304 - 31,841,553UniSTSGRCh37
Build 361330,739,304 - 30,739,553RGDNCBI36
Celera1312,909,042 - 12,909,291RGD
HuRef1312,652,666 - 12,652,915UniSTS
G30975  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371331,906,221 - 31,906,370UniSTSGRCh37
Build 361330,804,221 - 30,804,370RGDNCBI36
Celera1312,973,828 - 12,973,977RGD
Cytogenetic Map13q12.3UniSTS
HuRef1312,717,363 - 12,717,512UniSTS
A005Q24  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371331,905,359 - 31,905,465UniSTSGRCh37
Build 361330,803,359 - 30,803,465RGDNCBI36
Celera1312,972,973 - 12,973,079RGD
Cytogenetic Map13q12.3UniSTS
HuRef1312,716,508 - 12,716,614UniSTS
GeneMap99-GB4 RH Map1395.0UniSTS
NCBI RH Map13270.7UniSTS
G32270  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371331,905,359 - 31,905,465UniSTSGRCh37
Celera1312,972,973 - 12,973,079UniSTS
Cytogenetic Map13q12.3UniSTS
HuRef1312,716,508 - 12,716,614UniSTS


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
1204 2432 2788 2245 4942 1723 2345 4 622 1947 464 2268 7280 6453 51 3708 847 1731 1612 170

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_011732 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_194318 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006719768 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011534936 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011534938 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017020395 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047430110 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047430111 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054374128 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054374129 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054374130 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054374131 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054374132 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_941500 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA769548 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB101481 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK094979 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK291273 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL137142 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL138965 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AV728071 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY190526 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC031597 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC032021 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC047395 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC068595 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX647932 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471075 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068265 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA290408 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DN999521 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF455752 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000343307   ⟹   ENSP00000343002
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1331,199,975 - 31,332,276 (+)Ensembl
Ensembl Acc Id: ENST00000461652
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1331,260,407 - 31,284,755 (+)Ensembl
RefSeq Acc Id: NM_194318   ⟹   NP_919299
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381331,199,975 - 31,332,276 (+)NCBI
GRCh371331,774,112 - 31,906,413 (+)ENTREZGENE
Build 361330,672,112 - 30,804,413 (+)NCBI Archive
HuRef1312,600,539 - 12,717,555 (+)ENTREZGENE
CHM1_11331,741,727 - 31,874,040 (+)NCBI
T2T-CHM13v2.01330,422,990 - 30,555,445 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006719768   ⟹   XP_006719831
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381331,206,287 - 31,332,276 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011534936   ⟹   XP_011533238
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381331,199,975 - 31,332,276 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011534938   ⟹   XP_011533240
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381331,223,498 - 31,332,276 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047430110   ⟹   XP_047286066
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381331,222,969 - 31,332,276 (+)NCBI
RefSeq Acc Id: XM_047430111   ⟹   XP_047286067
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381331,199,975 - 31,284,736 (+)NCBI
RefSeq Acc Id: XM_054374128   ⟹   XP_054230103
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01330,422,990 - 30,555,445 (+)NCBI
RefSeq Acc Id: XM_054374129   ⟹   XP_054230104
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01330,429,302 - 30,555,445 (+)NCBI
RefSeq Acc Id: XM_054374130   ⟹   XP_054230105
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01330,445,979 - 30,555,445 (+)NCBI
RefSeq Acc Id: XM_054374131   ⟹   XP_054230106
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01330,446,508 - 30,555,445 (+)NCBI
RefSeq Acc Id: XM_054374132   ⟹   XP_054230107
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01330,422,990 - 30,507,743 (+)NCBI
RefSeq Acc Id: NP_919299   ⟸   NM_194318
- Peptide Label: precursor
- UniProtKB: Q5W0H2 (UniProtKB/Swiss-Prot),   A8K5F8 (UniProtKB/Swiss-Prot),   Q6NUI3 (UniProtKB/Swiss-Prot),   Q6Y288 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_006719831   ⟸   XM_006719768
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_011533238   ⟸   XM_011534936
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011533240   ⟸   XM_011534938
- Peptide Label: isoform X3
- Sequence:
Ensembl Acc Id: ENSP00000343002   ⟸   ENST00000343307
RefSeq Acc Id: XP_047286067   ⟸   XM_047430111
- Peptide Label: isoform X4
RefSeq Acc Id: XP_047286066   ⟸   XM_047430110
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054230103   ⟸   XM_054374128
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054230107   ⟸   XM_054374132
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054230104   ⟸   XM_054374129
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054230105   ⟸   XM_054374130
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054230106   ⟸   XM_054374131
- Peptide Label: isoform X3

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q6Y288-F1-model_v2 AlphaFold Q6Y288 1-498 view protein structure

Promoters
RGD ID:6790719
Promoter ID:HG_KWN:17460
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000044396
Position:
Human AssemblyChrPosition (strand)Source
Build 361330,672,011 - 30,672,562 (+)MPROMDB
RGD ID:7226173
Promoter ID:EPDNEW_H18832
Type:initiation region
Name:B3GLCT_1
Description:beta 3-glucosyltransferase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381331,199,975 - 31,200,035EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:20207 AgrOrtholog
COSMIC B3GLCT COSMIC
Ensembl Genes ENSG00000187676 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000343307 ENTREZGENE
  ENST00000343307.5 UniProtKB/Swiss-Prot
Gene3D-CATH 3.90.550.50 UniProtKB/Swiss-Prot
GTEx ENSG00000187676 GTEx
HGNC ID HGNC:20207 ENTREZGENE
Human Proteome Map B3GLCT Human Proteome Map
InterPro Fringe-like UniProtKB/Swiss-Prot
  Nucleotide-diphossugar_trans UniProtKB/Swiss-Prot
KEGG Report hsa:145173 UniProtKB/Swiss-Prot
NCBI Gene 145173 ENTREZGENE
OMIM 610308 OMIM
PANTHER BETA-1,3-GLUCOSYLTRANSFERASE UniProtKB/Swiss-Prot
  FRINGE-RELATED UniProtKB/Swiss-Prot
Pfam Fringe UniProtKB/Swiss-Prot
PharmGKB PA144596515 PharmGKB
PROSITE ER_TARGET UniProtKB/Swiss-Prot
Superfamily-SCOP SSF53448 UniProtKB/Swiss-Prot
UniProt A8K5F8 ENTREZGENE
  B3GLT_HUMAN UniProtKB/Swiss-Prot
  Q5W0H2 ENTREZGENE
  Q6NUI3 ENTREZGENE
  Q6Y288 ENTREZGENE
UniProt Secondary A8K5F8 UniProtKB/Swiss-Prot
  Q5W0H2 UniProtKB/Swiss-Prot
  Q6NUI3 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-06-09 B3GLCT  beta 3-glucosyltransferase  B3GALTL  beta 1,3-galactosyltransferase-like  Symbol and/or name change 5135510 APPROVED