TGDS (TDP-glucose 4,6-dehydratase) - Rat Genome Database

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Advanced Search (OLGA)
Gene: TGDS (TDP-glucose 4,6-dehydratase) Homo sapiens
Analyze
Symbol: TGDS
Name: TDP-glucose 4,6-dehydratase
RGD ID: 1315219
HGNC Page HGNC:20324
Description: Predicted to enable dTDP-glucose 4,6-dehydratase activity. Predicted to be involved in nucleotide-sugar metabolic process. Implicated in Catel Manzke syndrome.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: CATMANS; dTDP-D-glucose 4,6-dehydratase; growth-inhibiting protein 21; SDR2E1; short chain dehydrogenase/reductase family 2E, member 1; TDPGD
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
GRCh381394,574,054 - 94,596,273 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1394,574,054 - 94,596,242 (-)EnsemblGRCh38hg38GRCh38
GRCh371395,226,308 - 95,248,406 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361394,024,309 - 94,046,512 (-)NCBINCBI36Build 36hg18NCBI36
Build 341394,024,276 - 94,046,484NCBI
Celera1376,074,266 - 76,096,482 (-)NCBICelera
Cytogenetic Map13q32.1NCBI
HuRef1375,823,580 - 75,845,722 (-)NCBIHuRef
CHM1_11395,195,749 - 95,217,972 (-)NCBICHM1_1
T2T-CHM13v2.01393,777,561 - 93,799,780 (-)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

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal cardiovascular system morphology  (IAGP)
Abnormal epiphysis morphology  (IAGP)
Adducted thumb  (IAGP)
Atrial septal defect  (IAGP)
Autosomal recessive inheritance  (IAGP)
Bifid uvula  (IAGP)
Camptodactyly  (IAGP)
Camptodactyly of finger  (IAGP)
Chronic otitis media  (IAGP)
Cleft palate  (IAGP)
Cleft upper lip  (IAGP)
Clinodactyly of the 5th finger  (IAGP)
Coarctation of aorta  (IAGP)
Congenital miosis  (IAGP)
Congenital onset  (IAGP)
Cryptorchidism  (IAGP)
Cystic hygroma  (IAGP)
Dextrocardia  (IAGP)
Failure to thrive  (IAGP)
Full cheeks  (IAGP)
Genu valgum  (IAGP)
Global developmental delay  (IAGP)
Glossoptosis  (IAGP)
High palate  (IAGP)
Highly arched eyebrow  (IAGP)
Hyperphalangy of the 2nd finger  (IAGP)
Hypertelorism  (IAGP)
Inguinal hernia  (IAGP)
Intrauterine growth retardation  (IAGP)
Joint dislocation  (IAGP)
Joint hypermobility  (IAGP)
Joint stiffness  (IAGP)
Low insertion of columella  (IAGP)
Low-set ears  (IAGP)
Malar flattening  (IAGP)
Metatarsus valgus  (IAGP)
Micrognathia  (IAGP)
Narrow mouth  (IAGP)
Narrow naris  (IAGP)
Narrow nose  (IAGP)
Nasolacrimal duct obstruction  (IAGP)
Oral synechia  (IAGP)
Overriding aorta  (IAGP)
Pectus carinatum  (IAGP)
Pectus excavatum  (IAGP)
Pierre-Robin sequence  (IAGP)
Posteriorly rotated ears  (IAGP)
Postnatal growth retardation  (IAGP)
Proptosis  (IAGP)
Radial deviation of the 2nd finger  (IAGP)
Scoliosis  (IAGP)
Seizure  (IAGP)
Short femur  (IAGP)
Short humerus  (IAGP)
Short metacarpal  (IAGP)
Short neck  (IAGP)
Short stature  (IAGP)
Short toe  (IAGP)
Single transverse palmar crease  (IAGP)
Talipes equinovarus  (IAGP)
Thin eyebrow  (IAGP)
Ulnar deviation of the 2nd finger  (IAGP)
Umbilical hernia  (IAGP)
Upslanted palpebral fissure  (IAGP)
Ventricular septal defect  (IAGP)
Ventriculomegaly  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
4. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:12477932   PMID:12604213   PMID:15057823   PMID:15489334   PMID:17474147   PMID:18976975   PMID:19027726   PMID:21873635   PMID:22939629   PMID:23503679   PMID:25480037   PMID:28422407  
PMID:28514442   PMID:31769200   PMID:31833187   PMID:32814053   PMID:33961781  


Genomics

Comparative Map Data
TGDS
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381394,574,054 - 94,596,273 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1394,574,054 - 94,596,242 (-)EnsemblGRCh38hg38GRCh38
GRCh371395,226,308 - 95,248,406 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361394,024,309 - 94,046,512 (-)NCBINCBI36Build 36hg18NCBI36
Build 341394,024,276 - 94,046,484NCBI
Celera1376,074,266 - 76,096,482 (-)NCBICelera
Cytogenetic Map13q32.1NCBI
HuRef1375,823,580 - 75,845,722 (-)NCBIHuRef
CHM1_11395,195,749 - 95,217,972 (-)NCBICHM1_1
T2T-CHM13v2.01393,777,561 - 93,799,780 (-)NCBIT2T-CHM13v2.0
Tgds
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3914118,349,323 - 118,370,177 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl14118,349,323 - 118,370,167 (-)EnsemblGRCm39 Ensembl
GRCm3814118,111,911 - 118,132,765 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl14118,111,911 - 118,132,755 (-)EnsemblGRCm38mm10GRCm38
MGSCv3714118,511,133 - 118,531,987 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv3614116,994,822 - 117,015,076 (-)NCBIMGSCv36mm8
Celera14116,666,336 - 116,687,188 (-)NCBICelera
Cytogenetic Map14E4NCBI
cM Map1461.74NCBI
Tgds
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr815101,581,765 - 101,602,779 (-)NCBIGRCr8
mRatBN7.21595,175,064 - 95,195,555 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1595,174,608 - 95,195,554 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1599,079,895 - 99,100,420 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.015100,211,853 - 100,232,378 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01597,140,542 - 97,161,068 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.015103,319,268 - 103,340,239 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl15103,319,268 - 103,340,240 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.015106,757,794 - 106,778,765 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.415102,906,505 - 102,927,476 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.115102,886,389 - 102,947,401 (-)NCBI
Celera1594,026,655 - 94,047,623 (-)NCBICelera
Cytogenetic Map15q24NCBI
Tgds
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540415,279,866 - 15,298,295 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495540415,279,956 - 15,298,295 (+)NCBIChiLan1.0ChiLan1.0
TGDS
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21496,103,255 - 96,125,454 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11394,771,940 - 94,794,266 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01375,747,686 - 75,770,010 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11394,903,511 - 94,925,637 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1394,903,511 - 94,925,637 (-)Ensemblpanpan1.1panPan2
TGDS
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12245,384,119 - 45,400,128 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2245,384,412 - 45,400,314 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2245,170,937 - 45,186,953 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02245,814,910 - 45,831,319 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2245,814,910 - 45,831,337 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12245,468,436 - 45,484,465 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02245,509,305 - 45,525,339 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02245,518,896 - 45,534,916 (-)NCBIUU_Cfam_GSD_1.0
Tgds
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404945180,932,345 - 180,958,550 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493647214,993,710 - 15,014,408 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493647214,993,579 - 15,016,270 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
TGDS
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1163,695,638 - 63,716,568 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11163,695,612 - 63,716,614 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21169,863,218 - 69,884,205 (+)NCBISscrofa10.2Sscrofa10.2susScr3
TGDS
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1373,403,520 - 73,424,985 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl373,400,485 - 73,424,892 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604629,788,007 - 29,814,614 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Tgds
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248791,366,151 - 1,384,601 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248791,365,464 - 1,384,726 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in TGDS
85 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 13q22.3-32.1(chr13:78349126-94701844)x1 copy number loss See cases [RCV000051379] Chr13:78349126..94701844 [GRCh38]
Chr13:78923261..95354098 [GRCh37]
Chr13:77821262..94152099 [NCBI36]
Chr13:13q22.3-32.1		 pathogenic
GRCh38/hg38 13q31.1-34(chr13:82581008-114327173)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051380]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051380]|See cases [RCV000051380] Chr13:82581008..114327173 [GRCh38]
Chr13:83155143..115085141 [GRCh37]
Chr13:82053144..114110750 [NCBI36]
Chr13:13q31.1-34		 pathogenic
GRCh38/hg38 13q31.1-32.1(chr13:83947821-95128969)x1 copy number loss See cases [RCV000051414] Chr13:83947821..95128969 [GRCh38]
Chr13:84521956..95781223 [GRCh37]
Chr13:83419957..94579224 [NCBI36]
Chr13:13q31.1-32.1		 pathogenic
GRCh38/hg38 13q31.2-32.1(chr13:88260962-97285754)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051415]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051415]|See cases [RCV000051415] Chr13:88260962..97285754 [GRCh38]
Chr13:88913217..97938008 [GRCh37]
Chr13:87711218..96736009 [NCBI36]
Chr13:13q31.2-32.1		 pathogenic
GRCh38/hg38 13q31.2-32.3(chr13:88323009-98888644)x1 copy number loss See cases [RCV000051416] Chr13:88323009..98888644 [GRCh38]
Chr13:88975264..99540898 [GRCh37]
Chr13:87773265..98338899 [NCBI36]
Chr13:13q31.2-32.3		 pathogenic
GRCh38/hg38 13q31.3-32.1(chr13:89549510-96657834)x1 copy number loss See cases [RCV000051417] Chr13:89549510..96657834 [GRCh38]
Chr13:90201764..97310088 [GRCh37]
Chr13:88999765..96108089 [NCBI36]
Chr13:13q31.3-32.1		 pathogenic
GRCh38/hg38 13q31.3-34(chr13:91366227-114327314)x1 copy number loss See cases [RCV000051418] Chr13:91366227..114327314 [GRCh38]
Chr13:92018481..115085141 [GRCh37]
Chr13:90816482..114110891 [NCBI36]
Chr13:13q31.3-34		 pathogenic
GRCh38/hg38 13q31.3-32.1(chr13:93571649-97428965)x1 copy number loss See cases [RCV000051419] Chr13:93571649..97428965 [GRCh38]
Chr13:94223902..98081219 [GRCh37]
Chr13:93021903..96879220 [NCBI36]
Chr13:13q31.3-32.1		 pathogenic
GRCh38/hg38 13q31.1-33.2(chr13:82032938-106082542)x3 copy number gain See cases [RCV000051179] Chr13:82032938..106082542 [GRCh38]
Chr13:82607073..106734891 [GRCh37]
Chr13:81505074..105532892 [NCBI36]
Chr13:13q31.1-33.2		 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 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 13q11-34(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
GRCh38/hg38 13q13.2-34(chr13:33528097-114327173)x3 copy number gain See cases [RCV000053759] Chr13:33528097..114327173 [GRCh38]
Chr13:34102234..115085141 [GRCh37]
Chr13:33000234..114110750 [NCBI36]
Chr13:13q13.2-34		 pathogenic
GRCh38/hg38 13q31.3-33.1(chr13:93213623-101537104)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053790]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053790]|See cases [RCV000053790] Chr13:93213623..101537104 [GRCh38]
Chr13:93865876..102189455 [GRCh37]
Chr13:92663877..100987456 [NCBI36]
Chr13:13q31.3-33.1		 pathogenic
GRCh38/hg38 13q14.11-34(chr13:43219125-114327314)x3 copy number gain See cases [RCV000053762] Chr13:43219125..114327314 [GRCh38]
Chr13:43793261..115085141 [GRCh37]
Chr13:42691261..114110891 [NCBI36]
Chr13:13q14.11-34		 pathogenic
GRCh38/hg38 13q14.11-34(chr13:44164751-114327173)x3 copy number gain See cases [RCV000053764] Chr13:44164751..114327173 [GRCh38]
Chr13:44738887..115085141 [GRCh37]
Chr13:43636887..114110750 [NCBI36]
Chr13:13q14.11-34		 pathogenic
GRCh38/hg38 13q14.12-34(chr13:44733046-114327173)x3 copy number gain See cases [RCV000053767] Chr13:44733046..114327173 [GRCh38]
Chr13:45307182..115085141 [GRCh37]
Chr13:44205182..114110750 [NCBI36]
Chr13:13q14.12-34		 pathogenic
GRCh38/hg38 13q22.1-34(chr13:74345951-114327314)x3 copy number gain See cases [RCV000053770] Chr13:74345951..114327314 [GRCh38]
Chr13:74920088..115085141 [GRCh37]
Chr13:73818089..114110891 [NCBI36]
Chr13:13q22.1-34		 pathogenic
GRCh38/hg38 13q31.1-34(chr13:80628584-114327173)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053772]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053772]|See cases [RCV000053772] Chr13:80628584..114327173 [GRCh38]
Chr13:81202719..115085141 [GRCh37]
Chr13:80100720..114110750 [NCBI36]
Chr13:13q31.1-34		 pathogenic
NM_014305.4(TGDS):c.298G>T (p.Ala100Ser) single nucleotide variant Catel-Manzke syndrome [RCV000149817]|Inborn genetic diseases [RCV000624586]|TGDS-related disorder [RCV003415988]|not provided [RCV001092080] Chr13:94590868 [GRCh38]
Chr13:95243122 [GRCh37]
Chr13:13q32.1		 pathogenic|likely pathogenic|not provided
NM_014305.4(TGDS):c.700T>C (p.Tyr234His) single nucleotide variant Catel-Manzke syndrome [RCV000149818]|not provided [RCV001573977] Chr13:94578130 [GRCh38]
Chr13:95230384 [GRCh37]
Chr13:13q32.1		 pathogenic|likely pathogenic
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 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 13q31.2-34(chr13:88937651-114327173)x3 copy number gain See cases [RCV000137102] Chr13:88937651..114327173 [GRCh38]
Chr13:89589905..115085141 [GRCh37]
Chr13:88387906..114110750 [NCBI36]
Chr13:13q31.2-34		 pathogenic
GRCh38/hg38 13q31.3-33.3(chr13:93345058-109458154)x1 copy number loss See cases [RCV000136688] Chr13:93345058..109458154 [GRCh38]
Chr13:93997311..110110501 [GRCh37]
Chr13:92795312..108908502 [NCBI36]
Chr13:13q31.3-33.3		 pathogenic
GRCh38/hg38 13q14.11-34(chr13:40942298-114340331)x1 copy number loss See cases [RCV000137893] Chr13:40942298..114340331 [GRCh38]
Chr13:41516434..115085141 [GRCh37]
Chr13:40414434..114123908 [NCBI36]
Chr13:13q14.11-34		 pathogenic
GRCh38/hg38 13q31.1-34(chr13:78999318-114327106)x3 copy number gain See cases [RCV000138742] Chr13:78999318..114327106 [GRCh38]
Chr13:79573453..115085141 [GRCh37]
Chr13:78471454..114110683 [NCBI36]
Chr13:13q31.1-34		 pathogenic
GRCh38/hg38 13q31.1-34(chr13:86788927-114340331)x1 copy number loss See cases [RCV000138340] Chr13:86788927..114340331 [GRCh38]
Chr13:87441182..115085141 [GRCh37]
Chr13:86239183..114123908 [NCBI36]
Chr13:13q31.1-34		 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 13q31.2-32.3(chr13:87944479-99866542)x1 copy number loss See cases [RCV000139047] Chr13:87944479..99866542 [GRCh38]
Chr13:88596734..100518796 [GRCh37]
Chr13:87394735..99316797 [NCBI36]
Chr13:13q31.2-32.3		 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 13q31.1-34(chr13:78964223-114340331)x3 copy number gain See cases [RCV000141248] Chr13:78964223..114340331 [GRCh38]
Chr13:79538358..115085141 [GRCh37]
Chr13:78436359..114123908 [NCBI36]
Chr13:13q31.1-34		 pathogenic
GRCh38/hg38 13q31.1-34(chr13:83288131-114342258)x3 copy number gain See cases [RCV000141804] Chr13:83288131..114342258 [GRCh38]
Chr13:83862266..115107733 [GRCh37]
Chr13:82760267..114125835 [NCBI36]
Chr13:13q31.1-34		 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 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_014305.4(TGDS):c.294T>G (p.Phe98Leu) single nucleotide variant Catel-Manzke syndrome [RCV000149820] Chr13:94590872 [GRCh38]
Chr13:95243126 [GRCh37]
Chr13:13q32.1		 pathogenic|not provided
NM_014305.4(TGDS):c.270_271del (p.Lys91fs) microsatellite Catel-Manzke syndrome [RCV000149821]|not provided [RCV001762329] Chr13:94590895..94590896 [GRCh38]
Chr13:95243149..95243150 [GRCh37]
Chr13:13q32.1		 pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_014305.4(TGDS):c.269A>G (p.Glu90Gly) single nucleotide variant Catel-Manzke syndrome [RCV000149819] Chr13:94590897 [GRCh38]
Chr13:95243151 [GRCh37]
Chr13:13q32.1		 pathogenic|not provided
NM_014305.4(TGDS):c.892A>G (p.Asn298Asp) single nucleotide variant Catel-Manzke syndrome [RCV000149822] Chr13:94576404 [GRCh38]
Chr13:95228658 [GRCh37]
Chr13:13q32.1		 pathogenic
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
GRCh37/hg19 13q31.2-34(chr13:89796110-115083342)x1 copy number loss See cases [RCV000240161] Chr13:89796110..115083342 [GRCh37]
Chr13:13q31.2-34		 pathogenic
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_014305.4(TGDS):c.180T>A (p.Asn60Lys) single nucleotide variant Inborn genetic diseases [RCV000624236] Chr13:94592283 [GRCh38]
Chr13:95244537 [GRCh37]
Chr13:13q32.1		 uncertain significance
NM_014305.4(TGDS):c.582T>G (p.Ser194Arg) single nucleotide variant not provided [RCV001760634] Chr13:94579927 [GRCh38]
Chr13:95232181 [GRCh37]
Chr13:13q32.1		 uncertain significance
GRCh37/hg19 13q14.3-33.3(chr13:53551300-109850651)x1 copy number loss See cases [RCV000449272] Chr13:53551300..109850651 [GRCh37]
Chr13:13q14.3-33.3		 pathogenic
GRCh37/hg19 13q21.2-34(chr13:61424168-115107733)x3 copy number gain See cases [RCV000449118] Chr13:61424168..115107733 [GRCh37]
Chr13:13q21.2-34		 pathogenic
GRCh37/hg19 13q12.11-34(chr13:19571503-115092510) copy number gain See cases [RCV000449142] Chr13:19571503..115092510 [GRCh37]
Chr13:13q12.11-34		 pathogenic
GRCh37/hg19 13q31.3-34(chr13:94269729-115107733)x3 copy number gain See cases [RCV000447545] Chr13:94269729..115107733 [GRCh37]
Chr13:13q31.3-34		 pathogenic
GRCh37/hg19 13q31.1-34(chr13:82221361-115092569)x3 copy number gain See cases [RCV000447429] Chr13:82221361..115092569 [GRCh37]
Chr13:13q31.1-34		 pathogenic
GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3 copy number gain See cases [RCV000445886] Chr13:19436286..115107733 [GRCh37]
Chr13:13q11-34		 pathogenic
GRCh37/hg19 13q21.1-34(chr13:56431743-115107733) copy number gain See cases [RCV000510722] Chr13:56431743..115107733 [GRCh37]
Chr13:13q21.1-34		 pathogenic
GRCh37/hg19 13q31.1-33.1(chr13:81851091-102864674)x1 copy number loss See cases [RCV000448988] Chr13:81851091..102864674 [GRCh37]
Chr13:13q31.1-33.1		 pathogenic
GRCh37/hg19 13q31.2-34(chr13:88073140-115107733)x1 copy number loss See cases [RCV000448405] Chr13:88073140..115107733 [GRCh37]
Chr13:13q31.2-34		 pathogenic
GRCh37/hg19 13q11-34(chr13:19436287-115107733) copy number gain See cases [RCV000510405] Chr13:19436287..115107733 [GRCh37]
Chr13:13q11-34		 pathogenic
GRCh37/hg19 13q31.3-34(chr13:94474530-115107733)x1 copy number loss See cases [RCV000510535] Chr13:94474530..115107733 [GRCh37]
Chr13:13q31.3-34		 pathogenic
GRCh37/hg19 13q21.33-34(chr13:71871468-115107733)x4 copy number gain See cases [RCV000510281] Chr13:71871468..115107733 [GRCh37]
Chr13:13q21.33-34		 pathogenic
GRCh37/hg19 13q31.1-34(chr13:80058840-115107733)x3 copy number gain See cases [RCV000510566] Chr13:80058840..115107733 [GRCh37]
Chr13:13q31.1-34		 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 13q31.1-33.3(chr13:80572498-108719528)x1 copy number loss See cases [RCV000510890] Chr13:80572498..108719528 [GRCh37]
Chr13:13q31.1-33.3		 pathogenic
NM_014305.4(TGDS):c.685A>C (p.Thr229Pro) single nucleotide variant Inborn genetic diseases [RCV003249910] Chr13:94578145 [GRCh38]
Chr13:95230399 [GRCh37]
Chr13:13q32.1		 uncertain significance
NM_014305.4(TGDS):c.25C>T (p.Pro9Ser) single nucleotide variant Inborn genetic diseases [RCV003310965]|not provided [RCV003575071] Chr13:94596112 [GRCh38]
Chr13:95248366 [GRCh37]
Chr13:13q32.1		 uncertain significance
GRCh37/hg19 13q31.1-34(chr13:83435292-115107733)x3 copy number gain See cases [RCV000512605] Chr13:83435292..115107733 [GRCh37]
Chr13:13q31.1-34		 pathogenic
GRCh37/hg19 13q14.3-32.1(chr13:53932358-96586363)x3 copy number gain See cases [RCV000512571] Chr13:53932358..96586363 [GRCh37]
Chr13:13q14.3-32.1		 pathogenic
NM_014305.4(TGDS):c.286C>A (p.Leu96Ile) single nucleotide variant Inborn genetic diseases [RCV000622534] Chr13:94590880 [GRCh38]
Chr13:95243134 [GRCh37]
Chr13:13q32.1		 uncertain significance
GRCh37/hg19 13q31.1-34(chr13:85176519-115107733)x3 copy number gain See cases [RCV000512242] Chr13:85176519..115107733 [GRCh37]
Chr13:13q31.1-34		 pathogenic
GRCh37/hg19 13q31.3-32.1(chr13:94857382-96639428)x3 copy number gain not provided [RCV000683550] Chr13:94857382..96639428 [GRCh37]
Chr13:13q31.3-32.1		 uncertain significance
GRCh37/hg19 13q22.3-34(chr13:78590089-115107733)x3 copy number gain not provided [RCV000683571] Chr13:78590089..115107733 [GRCh37]
Chr13:13q22.3-34		 pathogenic
GRCh37/hg19 13q31.3-32.1(chr13:93348248-96975820)x3 copy number gain not provided [RCV000683560] Chr13:93348248..96975820 [GRCh37]
Chr13:13q31.3-32.1		 uncertain significance
GRCh37/hg19 13q31.3-33.3(chr13:94703767-109731879)x1 copy number loss not provided [RCV000683570] Chr13:94703767..109731879 [GRCh37]
Chr13:13q31.3-33.3		 pathogenic
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
NC_000013.11:g.94596497C>T single nucleotide variant not provided [RCV001681009] Chr13:94596497 [GRCh38]
Chr13:95248751 [GRCh37]
Chr13:13q32.1		 benign
NM_014305.4(TGDS):c.12G>A (p.Ala4=) single nucleotide variant TGDS-related disorder [RCV003943091]|not provided [RCV000959128] Chr13:94596125 [GRCh38]
Chr13:95248379 [GRCh37]
Chr13:13q32.1		 benign|likely benign
NM_014305.4(TGDS):c.264A>G (p.Glu88=) single nucleotide variant not provided [RCV000931075] Chr13:94590902 [GRCh38]
Chr13:95243156 [GRCh37]
Chr13:13q32.1		 likely benign
NM_014305.4(TGDS):c.714T>G (p.Val238=) single nucleotide variant TGDS-related disorder [RCV003958405]|not provided [RCV000918201] Chr13:94578116 [GRCh38]
Chr13:95230370 [GRCh37]
Chr13:13q32.1		 likely benign
NM_014305.4(TGDS):c.97A>G (p.Met33Val) single nucleotide variant not provided [RCV000924565] Chr13:94593897 [GRCh38]
Chr13:95246151 [GRCh37]
Chr13:13q32.1		 pathogenic|likely benign
NM_014305.4(TGDS):c.456+9A>C single nucleotide variant not provided [RCV000975453] Chr13:94583085 [GRCh38]
Chr13:95235339 [GRCh37]
Chr13:13q32.1		 likely benign
GRCh37/hg19 13q31.3-32.1(chr13:94896219-96993668)x3 copy number gain not provided [RCV001006588] Chr13:94896219..96993668 [GRCh37]
Chr13:13q31.3-32.1		 uncertain significance
GRCh37/hg19 13q21.2-34(chr13:61775567-115107733)x3 copy number gain not provided [RCV000848025] Chr13:61775567..115107733 [GRCh37]
Chr13:13q21.2-34		 pathogenic
NM_014305.4(TGDS):c.983-8C>T single nucleotide variant not provided [RCV000894054] Chr13:94574860 [GRCh38]
Chr13:95227114 [GRCh37]
Chr13:13q32.1		 likely benign
GRCh37/hg19 13q31.3-34(chr13:94849303-115107733)x3 copy number gain not provided [RCV000847710] Chr13:94849303..115107733 [GRCh37]
Chr13:13q31.3-34		 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_014305.4(TGDS):c.983-35_983-33del deletion not provided [RCV001695704] Chr13:94574885..94574887 [GRCh38]
Chr13:95227139..95227141 [GRCh37]
Chr13:13q32.1		 benign
NC_000013.11:g.94596312C>T single nucleotide variant not provided [RCV001653352] Chr13:94596312 [GRCh38]
Chr13:95248566 [GRCh37]
Chr13:13q32.1		 benign
NM_014305.4(TGDS):c.615+167A>G single nucleotide variant not provided [RCV001674812] Chr13:94579727 [GRCh38]
Chr13:95231981 [GRCh37]
Chr13:13q32.1		 benign
NM_014305.4(TGDS):c.996A>G (p.Arg332=) single nucleotide variant not provided [RCV000975465] Chr13:94574839 [GRCh38]
Chr13:95227093 [GRCh37]
Chr13:13q32.1		 likely benign
NM_014305.4(TGDS):c.297C>T (p.Ala99=) single nucleotide variant not provided [RCV000952993] Chr13:94590869 [GRCh38]
Chr13:95243123 [GRCh37]
Chr13:13q32.1		 benign
NM_014305.4(TGDS):c.308A>T (p.His103Leu) single nucleotide variant Inborn genetic diseases [RCV002540307]|not provided [RCV001760635] Chr13:94590858 [GRCh38]
Chr13:95243112 [GRCh37]
Chr13:13q32.1		 uncertain significance
NM_014305.4(TGDS):c.642A>G (p.Leu214=) single nucleotide variant not provided [RCV000920899] Chr13:94578747 [GRCh38]
Chr13:95231001 [GRCh37]
Chr13:13q32.1		 likely benign
NM_014305.4(TGDS):c.43G>A (p.Gly15Ser) single nucleotide variant not provided [RCV000957904] Chr13:94596094 [GRCh38]
Chr13:95248348 [GRCh37]
Chr13:13q32.1		 benign
NM_014305.4(TGDS):c.659+8A>G single nucleotide variant not provided [RCV000913870] Chr13:94578722 [GRCh38]
Chr13:95230976 [GRCh37]
Chr13:13q32.1		 likely benign
NM_014305.4(TGDS):c.314-136T>A single nucleotide variant not provided [RCV001721615] Chr13:94583372 [GRCh38]
Chr13:95235626 [GRCh37]
Chr13:13q32.1		 benign
NM_014305.4(TGDS):c.616-208A>G single nucleotide variant not provided [RCV001676216] Chr13:94578981 [GRCh38]
Chr13:95231235 [GRCh37]
Chr13:13q32.1		 benign
NM_014305.4(TGDS):c.825+148_825+152del deletion not provided [RCV001676362] Chr13:94577853..94577857 [GRCh38]
Chr13:95230107..95230111 [GRCh37]
Chr13:13q32.1		 benign
NM_014305.4(TGDS):c.457-164C>T single nucleotide variant not provided [RCV001710513] Chr13:94581353 [GRCh38]
Chr13:95233607 [GRCh37]
Chr13:13q32.1		 benign
NM_014305.4(TGDS):c.826-52T>C single nucleotide variant not provided [RCV001669248] Chr13:94577481 [GRCh38]
Chr13:95229735 [GRCh37]
Chr13:13q32.1		 benign
NM_014305.4(TGDS):c.983-234G>A single nucleotide variant not provided [RCV001707165] Chr13:94575086 [GRCh38]
Chr13:95227340 [GRCh37]
Chr13:13q32.1		 benign
NM_014305.4(TGDS):c.983-23del deletion not provided [RCV001648355] Chr13:94574875 [GRCh38]
Chr13:95227129 [GRCh37]
Chr13:13q32.1		 benign
NM_014305.4(TGDS):c.314-67T>C single nucleotide variant not provided [RCV001679107] Chr13:94583303 [GRCh38]
Chr13:95235557 [GRCh37]
Chr13:13q32.1		 benign
NM_014305.4(TGDS):c.983-35_983-34del deletion not provided [RCV001616589] Chr13:94574886..94574887 [GRCh38]
Chr13:95227140..95227141 [GRCh37]
Chr13:13q32.1		 benign
NM_014305.4(TGDS):c.223-73C>T single nucleotide variant not provided [RCV001714148] Chr13:94591016 [GRCh38]
Chr13:95243270 [GRCh37]
Chr13:13q32.1		 benign
NM_014305.4(TGDS):c.660-201_660-200insCACTAATATGTTTGC insertion not provided [RCV001645456] Chr13:94578370..94578371 [GRCh38]
Chr13:95230624..95230625 [GRCh37]
Chr13:13q32.1		 benign
GRCh37/hg19 13q14.3-34(chr13:53262013-115107733)x1 copy number loss not provided [RCV001006567] Chr13:53262013..115107733 [GRCh37]
Chr13:13q14.3-34		 pathogenic
NM_014305.4(TGDS):c.153+1G>T single nucleotide variant Catel Manzke syndrome [RCV001294115] Chr13:94593840 [GRCh38]
Chr13:95246094 [GRCh37]
Chr13:13q32.1		 pathogenic
Single allele deletion Distal monosomy 13q [RCV001391677] Chr13:94679977..111536145 [GRCh37]
Chr13:13q31.3-34		 pathogenic
GRCh37/hg19 13q11-34(chr13:19053605-115108528)x3 copy number gain See cases [RCV001353184] Chr13:19053605..115108528 [GRCh37]
Chr13:13q11-34		 pathogenic
Single allele deletion Congenital miosis [RCV001270921] Chr13:95209609..95292265 [GRCh37]
Chr13:13q32.1		 pathogenic
NC_000013.10:g.(?_92002837)_(103343314_?)del deletion Holoprosencephaly 5 [RCV001388033] Chr13:92002837..103343314 [GRCh37]
Chr13:13q31.3-33.1		 pathogenic
NM_014305.4(TGDS):c.457-2A>G single nucleotide variant Catel-Manzke syndrome [RCV002810053] Chr13:94581191 [GRCh38]
Chr13:95233445 [GRCh37]
Chr13:13q32.1		 pathogenic|likely pathogenic
NM_014305.4(TGDS):c.456+173A>G single nucleotide variant not provided [RCV001537521] Chr13:94582921 [GRCh38]
Chr13:95235175 [GRCh37]
Chr13:13q32.1		 benign
NM_014305.4(TGDS):c.87-279G>A single nucleotide variant not provided [RCV001649008] Chr13:94594186 [GRCh38]
Chr13:95246440 [GRCh37]
Chr13:13q32.1		 benign
NM_014305.4(TGDS):c.659+107C>T single nucleotide variant not provided [RCV001649156] Chr13:94578623 [GRCh38]
Chr13:95230877 [GRCh37]
Chr13:13q32.1		 benign
NM_014305.4(TGDS):c.983-34dup duplication not provided [RCV001674093] Chr13:94574874..94574875 [GRCh38]
Chr13:95227128..95227129 [GRCh37]
Chr13:13q32.1		 benign
NM_014305.4(TGDS):c.1034T>C (p.Leu345Ser) single nucleotide variant not provided [RCV001756758] Chr13:94574801 [GRCh38]
Chr13:95227055 [GRCh37]
Chr13:13q32.1		 uncertain significance
GRCh37/hg19 13p13-q34(chr13:1-115169878)x3 copy number gain See cases [RCV001780076] Chr13:1..115169878 [GRCh37]
Chr13:13p13-q34		 pathogenic
GRCh37/hg19 13p13-q34(chr13:1-115169878) copy number gain Complete trisomy 13 syndrome [RCV002280659] Chr13:1..115169878 [GRCh37]
Chr13:13p13-q34		 pathogenic
GRCh37/hg19 13q21.2-34(chr13:61424168-115107733) copy number gain not specified [RCV002053063] Chr13:61424168..115107733 [GRCh37]
Chr13:13q21.2-34		 pathogenic
GRCh37/hg19 13q31.1-34(chr13:85037147-115107733) copy number gain not specified [RCV002053073] Chr13:85037147..115107733 [GRCh37]
Chr13:13q31.1-34		 pathogenic
GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3 copy number gain not provided [RCV001834436] Chr13:19436286..115107733 [GRCh37]
Chr13:13q11-34		 pathogenic
GRCh37/hg19 13q22.3-34(chr13:78514567-115107733) copy number gain not specified [RCV002053071] Chr13:78514567..115107733 [GRCh37]
Chr13:13q22.3-34		 pathogenic
GRCh37/hg19 13q11-34(chr13:19436286-114981726) copy number gain not specified [RCV002053035] Chr13:19436286..114981726 [GRCh37]
Chr13:13q11-34		 pathogenic
GRCh37/hg19 13q31.2-34(chr13:88073140-115107733) copy number loss not specified [RCV002053074] Chr13:88073140..115107733 [GRCh37]
Chr13:13q31.2-34		 pathogenic
GRCh37/hg19 13q31.1-34(chr13:79370012-115107733) copy number loss not specified [RCV002053072] Chr13:79370012..115107733 [GRCh37]
Chr13:13q31.1-34		 pathogenic
GRCh37/hg19 13q14.11-33.3(chr13:42504540-108206269)x3 copy number gain not provided [RCV001829235] Chr13:42504540..108206269 [GRCh37]
Chr13:13q14.11-33.3		 pathogenic
GRCh37/hg19 13q11-34(chr13:19436286-115107733) copy number gain not specified [RCV002053036] Chr13:19436286..115107733 [GRCh37]
Chr13:13q11-34		 pathogenic
NM_014305.4(TGDS):c.169A>T (p.Ser57Cys) single nucleotide variant not provided [RCV001973800] Chr13:94592294 [GRCh38]
Chr13:95244548 [GRCh37]
Chr13:13q32.1		 uncertain significance
NC_000013.10:g.(?_95034648)_(96443284_?)dup duplication not provided [RCV001920618] Chr13:95034648..96443284 [GRCh37]
Chr13:13q32.1		 uncertain significance
NM_014305.4(TGDS):c.825+4T>A single nucleotide variant not provided [RCV002031328] Chr13:94578001 [GRCh38]
Chr13:95230255 [GRCh37]
Chr13:13q32.1		 uncertain significance
NM_014305.4(TGDS):c.500C>A (p.Ala167Glu) single nucleotide variant not provided [RCV001993954] Chr13:94581146 [GRCh38]
Chr13:95233400 [GRCh37]
Chr13:13q32.1		 uncertain significance
NM_014305.4(TGDS):c.126A>G (p.Pro42=) single nucleotide variant not provided [RCV002093757] Chr13:94593868 [GRCh38]
Chr13:95246122 [GRCh37]
Chr13:13q32.1		 likely benign
NM_014305.4(TGDS):c.826-14T>C single nucleotide variant not provided [RCV002076513] Chr13:94577443 [GRCh38]
Chr13:95229697 [GRCh37]
Chr13:13q32.1		 benign
NM_014305.4(TGDS):c.86+16G>A single nucleotide variant not provided [RCV002136792] Chr13:94596035 [GRCh38]
Chr13:95248289 [GRCh37]
Chr13:13q32.1		 benign
NM_014305.4(TGDS):c.957T>C (p.Pro319=) single nucleotide variant TGDS-related disorder [RCV003950986]|not provided [RCV002083442] Chr13:94576339 [GRCh38]
Chr13:95228593 [GRCh37]
Chr13:13q32.1		 likely benign
NC_000013.10:g.(?_93879710)_(95248390_?)del deletion not provided [RCV003116416] Chr13:93879710..95248390 [GRCh37]
Chr13:13q31.3-32.1		 pathogenic
NC_000013.10:g.(?_93879710)_(96443284_?)dup duplication not provided [RCV003116418] Chr13:93879710..96443284 [GRCh37]
Chr13:13q31.3-32.1		 uncertain significance
NM_014305.4(TGDS):c.481C>G (p.Gln161Glu) single nucleotide variant not provided [RCV003118452] Chr13:94581165 [GRCh38]
Chr13:95233419 [GRCh37]
Chr13:13q32.1		 uncertain significance
GRCh37/hg19 13q31.2-34(chr13:89490345-115062235)x3 copy number gain See cases [RCV002286354] Chr13:89490345..115062235 [GRCh37]
Chr13:13q31.2-34		 pathogenic
GRCh37/hg19 13q11-34(chr13:19253848-115108937)x3 copy number gain not provided [RCV002291540] Chr13:19253848..115108937 [GRCh37]
Chr13:13q11-34		 pathogenic
GRCh37/hg19 13q31.3-33.2(chr13:93535335-105788229)x1 copy number loss not provided [RCV002473593] Chr13:93535335..105788229 [GRCh37]
Chr13:13q31.3-33.2		 pathogenic
GRCh37/hg19 13q22.1-34(chr13:75268539-115107733)x3 copy number gain not provided [RCV002472537] Chr13:75268539..115107733 [GRCh37]
Chr13:13q22.1-34		 pathogenic
NM_014305.4(TGDS):c.439G>T (p.Gly147Cys) single nucleotide variant not provided [RCV002726264] Chr13:94583111 [GRCh38]
Chr13:95235365 [GRCh37]
Chr13:13q32.1		 uncertain significance
NM_014305.4(TGDS):c.285A>G (p.Val95=) single nucleotide variant not provided [RCV003075760] Chr13:94590881 [GRCh38]
Chr13:95243135 [GRCh37]
Chr13:13q32.1		 likely benign
NM_014305.4(TGDS):c.793G>A (p.Val265Ile) single nucleotide variant Inborn genetic diseases [RCV002738091] Chr13:94578037 [GRCh38]
Chr13:95230291 [GRCh37]
Chr13:13q32.1		 uncertain significance
NM_014305.4(TGDS):c.834G>C (p.Glu278Asp) single nucleotide variant Inborn genetic diseases [RCV002822699] Chr13:94577421 [GRCh38]
Chr13:95229675 [GRCh37]
Chr13:13q32.1		 uncertain significance
NM_014305.4(TGDS):c.154-20C>G single nucleotide variant not provided [RCV002569866] Chr13:94592329 [GRCh38]
Chr13:95244583 [GRCh37]
Chr13:13q32.1		 likely benign
NM_014305.4(TGDS):c.547C>G (p.Gln183Glu) single nucleotide variant Inborn genetic diseases [RCV002797906] Chr13:94581099 [GRCh38]
Chr13:95233353 [GRCh37]
Chr13:13q32.1		 uncertain significance
NM_014305.4(TGDS):c.313+1G>A single nucleotide variant Catel-Manzke syndrome [RCV002510448] Chr13:94590852 [GRCh38]
Chr13:95243106 [GRCh37]
Chr13:13q32.1		 likely pathogenic
NM_014305.4(TGDS):c.86+3A>C single nucleotide variant not provided [RCV002576293] Chr13:94596048 [GRCh38]
Chr13:95248302 [GRCh37]
Chr13:13q32.1		 uncertain significance
NM_014305.4(TGDS):c.305C>T (p.Thr102Ile) single nucleotide variant Catel-Manzke syndrome [RCV002790047] Chr13:94590861 [GRCh38]
Chr13:95243115 [GRCh37]
Chr13:13q32.1		 likely pathogenic
NM_014305.4(TGDS):c.389A>G (p.His130Arg) single nucleotide variant Inborn genetic diseases [RCV002929671] Chr13:94583161 [GRCh38]
Chr13:95235415 [GRCh37]
Chr13:13q32.1		 uncertain significance
NM_014305.4(TGDS):c.555+14G>A single nucleotide variant not provided [RCV002712156] Chr13:94581077 [GRCh38]
Chr13:95233331 [GRCh37]
Chr13:13q32.1		 likely benign
NM_014305.4(TGDS):c.222+5G>A single nucleotide variant not provided [RCV002966071] Chr13:94592236 [GRCh38]
Chr13:95244490 [GRCh37]
Chr13:13q32.1		 benign
NM_014305.4(TGDS):c.347A>G (p.Tyr116Cys) single nucleotide variant Inborn genetic diseases [RCV002652836] Chr13:94583203 [GRCh38]
Chr13:95235457 [GRCh37]
Chr13:13q32.1		 uncertain significance
NM_014305.4(TGDS):c.456+19T>C single nucleotide variant not provided [RCV002605013] Chr13:94583075 [GRCh38]
Chr13:95235329 [GRCh37]
Chr13:13q32.1		 likely benign
NM_014305.4(TGDS):c.741A>G (p.Lys247=) single nucleotide variant not provided [RCV002605801] Chr13:94578089 [GRCh38]
Chr13:95230343 [GRCh37]
Chr13:13q32.1		 likely benign
NM_014305.4(TGDS):c.491A>C (p.Asn164Thr) single nucleotide variant Catel-Manzke syndrome [RCV003140989] Chr13:94581155 [GRCh38]
Chr13:95233409 [GRCh37]
Chr13:13q32.1		 uncertain significance
NM_014305.4(TGDS):c.885-2A>C single nucleotide variant Catel-Manzke syndrome [RCV003140988] Chr13:94576413 [GRCh38]
Chr13:95228667 [GRCh37]
Chr13:13q32.1		 uncertain significance
NM_014305.4(TGDS):c.37C>T (p.Pro13Ser) single nucleotide variant Inborn genetic diseases [RCV003198638] Chr13:94596100 [GRCh38]
Chr13:95248354 [GRCh37]
Chr13:13q32.1		 uncertain significance
NM_014305.4(TGDS):c.554A>C (p.Lys185Thr) single nucleotide variant Catel-Manzke syndrome [RCV003337820] Chr13:94581092 [GRCh38]
Chr13:95233346 [GRCh37]
Chr13:13q32.1		 uncertain significance
GRCh37/hg19 13q21.33-33.1(chr13:73132193-104595598)x1 copy number loss not provided [RCV003483190] Chr13:73132193..104595598 [GRCh37]
Chr13:13q21.33-33.1		 pathogenic
GRCh37/hg19 13q31.2-33.2(chr13:89012420-106371634)x1 copy number loss not provided [RCV003483195] Chr13:89012420..106371634 [GRCh37]
Chr13:13q31.2-33.2		 pathogenic
GRCh37/hg19 13q31.1-34(chr13:82131211-115107733)x1 copy number loss not provided [RCV003483192] Chr13:82131211..115107733 [GRCh37]
Chr13:13q31.1-34		 pathogenic
GRCh37/hg19 13q21.2-34(chr13:61534068-115107733)x3 copy number gain not provided [RCV003484899] Chr13:61534068..115107733 [GRCh37]
Chr13:13q21.2-34		 pathogenic
GRCh37/hg19 13q22.1-34(chr13:73488238-115107733)x3 copy number gain not provided [RCV003484901] Chr13:73488238..115107733 [GRCh37]
Chr13:13q22.1-34		 pathogenic
GRCh37/hg19 13q31.3-32.1(chr13:94064930-95288392)x3 copy number gain not provided [RCV003484903] Chr13:94064930..95288392 [GRCh37]
Chr13:13q31.3-32.1		 uncertain significance
NM_014305.4(TGDS):c.405G>A (p.Glu135=) single nucleotide variant not provided [RCV003740192] Chr13:94583145 [GRCh38]
Chr13:95235399 [GRCh37]
Chr13:13q32.1		 likely benign
NM_014305.4(TGDS):c.1050A>G (p.Val350=) single nucleotide variant not provided [RCV003825075] Chr13:94574785 [GRCh38]
Chr13:95227039 [GRCh37]
Chr13:13q32.1		 likely benign
NM_014305.4(TGDS):c.327A>G (p.Val109=) single nucleotide variant not provided [RCV003561505] Chr13:94583223 [GRCh38]
Chr13:95235477 [GRCh37]
Chr13:13q32.1		 likely benign
NM_014305.4(TGDS):c.884G>A (p.Arg295Lys) single nucleotide variant not specified [RCV003995144] Chr13:94577371 [GRCh38]
Chr13:95229625 [GRCh37]
Chr13:13q32.1		 uncertain significance
NM_014305.4(TGDS):c.659+14A>G single nucleotide variant not provided [RCV003859078] Chr13:94578716 [GRCh38]
Chr13:95230970 [GRCh37]
Chr13:13q32.1		 likely benign
NM_014305.4(TGDS):c.1046C>T (p.Pro349Leu) single nucleotide variant not provided [RCV003566502] Chr13:94574789 [GRCh38]
Chr13:95227043 [GRCh37]
Chr13:13q32.1		 benign
NM_014305.4(TGDS):c.825+20G>T single nucleotide variant not provided [RCV003843387] Chr13:94577985 [GRCh38]
Chr13:95230239 [GRCh37]
Chr13:13q32.1		 likely benign
NM_014305.4(TGDS):c.136A>C (p.Ile46Leu) single nucleotide variant not provided [RCV003707625] Chr13:94593858 [GRCh38]
Chr13:95246112 [GRCh37]
Chr13:13q32.1		 uncertain significance
NM_014305.4(TGDS):c.223-8T>A single nucleotide variant not provided [RCV003564310] Chr13:94590951 [GRCh38]
Chr13:95243205 [GRCh37]
Chr13:13q32.1		 likely benign
NM_014305.4(TGDS):c.-10G>A single nucleotide variant TGDS-related disorder [RCV003939865] Chr13:94596146 [GRCh38]
Chr13:95248400 [GRCh37]
Chr13:13q32.1		 likely benign
GRCh37/hg19 13q31.1-34(chr13:84669397-115107733)x1 copy number loss not specified [RCV003987038] Chr13:84669397..115107733 [GRCh37]
Chr13:13q31.1-34		 pathogenic
GRCh37/hg19 13q31.1-34(chr13:82876219-115107733)x3 copy number gain not specified [RCV003987023] Chr13:82876219..115107733 [GRCh37]
Chr13:13q31.1-34		 pathogenic
GRCh37/hg19 13q14.2-32.2(chr13:49547974-98214905)x1 copy number loss not specified [RCV003987008] Chr13:49547974..98214905 [GRCh37]
Chr13:13q14.2-32.2		 pathogenic
GRCh37/hg19 13q21.31-33.1(chr13:64825656-103641349)x1 copy number loss not specified [RCV003987009] Chr13:64825656..103641349 [GRCh37]
Chr13:13q21.31-33.1		 pathogenic
NM_014305.4(TGDS):c.555+9T>C single nucleotide variant not provided [RCV003566623] Chr13:94581082 [GRCh38]
Chr13:95233336 [GRCh37]
Chr13:13q32.1		 likely benign
NM_014305.4(TGDS):c.1014G>C (p.Trp338Cys) single nucleotide variant not provided [RCV004547184] Chr13:94574821 [GRCh38]
Chr13:95227075 [GRCh37]
Chr13:13q32.1		 likely pathogenic
NM_014305.4(TGDS):c.87-4A>G single nucleotide variant TGDS-related disorder [RCV003937243] Chr13:94593911 [GRCh38]
Chr13:95246165 [GRCh37]
Chr13:13q32.1		 likely benign
NM_014305.4(TGDS):c.103G>A (p.Val35Ile) single nucleotide variant Catel-Manzke syndrome [RCV003990413] Chr13:94593891 [GRCh38]
Chr13:95246145 [GRCh37]
Chr13:13q32.1		 uncertain significance
NM_014305.4(TGDS):c.1039C>T (p.Pro347Ser) single nucleotide variant Inborn genetic diseases [RCV004474490] Chr13:94574796 [GRCh38]
Chr13:95227050 [GRCh37]
Chr13:13q32.1		 uncertain significance
NM_014305.4(TGDS):c.30G>C (p.Trp10Cys) single nucleotide variant Inborn genetic diseases [RCV004474491] Chr13:94596107 [GRCh38]
Chr13:95248361 [GRCh37]
Chr13:13q32.1		 uncertain significance
NM_014305.4(TGDS):c.40G>C (p.Gly14Arg) single nucleotide variant Inborn genetic diseases [RCV004474492] Chr13:94596097 [GRCh38]
Chr13:95248351 [GRCh37]
Chr13:13q32.1		 uncertain significance
NM_014305.4(TGDS):c.596C>T (p.Pro199Leu) single nucleotide variant Inborn genetic diseases [RCV004474493] Chr13:94579913 [GRCh38]
Chr13:95232167 [GRCh37]
Chr13:13q32.1		 uncertain significance
NM_014305.4(TGDS):c.944G>T (p.Arg315Ile) single nucleotide variant Inborn genetic diseases [RCV004474494] Chr13:94576352 [GRCh38]
Chr13:95228606 [GRCh37]
Chr13:13q32.1		 uncertain significance
NM_014305.4(TGDS):c.408G>T (p.Lys136Asn) single nucleotide variant Inborn genetic diseases [RCV004668394] Chr13:94583142 [GRCh38]
Chr13:95235396 [GRCh37]
Chr13:13q32.1		 uncertain significance
NM_014305.4(TGDS):c.476C>G (p.Pro159Arg) single nucleotide variant not provided [RCV004763102]   uncertain significance
NM_014305.4(TGDS):c.329G>C (p.Arg110Pro) single nucleotide variant not provided [RCV004770853] Chr13:94583221 [GRCh38]
Chr13:95235475 [GRCh37]
Chr13:13q32.1		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:531
Count of miRNA genes:435
Interacting mature miRNAs:470
Transcripts:ENST00000261296, ENST00000470480, ENST00000498294
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
2289426BW213_HBody weight QTL 213 (human)2.780.0002Body weightBMI1384267977110267977Human
2289433BW340_HBody weight QTL 340 (human)3.11Body morphometrywaist circumference1384267977110267977Human

Markers in Region
RH102327  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371395,228,362 - 95,228,487UniSTSGRCh37
Build 361394,026,363 - 94,026,488RGDNCBI36
Celera1376,076,320 - 76,076,445RGD
Cytogenetic Map13q32.1UniSTS
HuRef1375,825,634 - 75,825,759UniSTS
GeneMap99-GB4 RH Map13264.72UniSTS


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
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2438 2788 2252 4972 1726 2351 6 624 1951 465 2269 7305 6471 53 3733 1 852 1744 1617 174 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_041837 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001304430 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_014305 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_130731 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_130732 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011521065 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011521066 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054374380 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054374381 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF048686 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ006068 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK303439 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK313251 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL139318 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL359708 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL527626 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY544125 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC005284 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC033675 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG546428 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG702561 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI914642 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471085 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068265 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000261296   ⟹   ENSP00000261296
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1394,574,054 - 94,596,152 (-)Ensembl
Ensembl Acc Id: ENST00000470480
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1394,579,286 - 94,581,189 (-)Ensembl
Ensembl Acc Id: ENST00000498294
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1394,578,730 - 94,596,242 (-)Ensembl
RefSeq Acc Id: NM_001304430   ⟹   NP_001291359
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381394,574,054 - 94,596,152 (-)NCBI
CHM1_11395,195,749 - 95,217,990 (-)NCBI
T2T-CHM13v2.01393,777,561 - 93,799,659 (-)NCBI
Sequence:
RefSeq Acc Id: NM_014305   ⟹   NP_055120
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381394,574,054 - 94,596,152 (-)NCBI
GRCh371395,226,308 - 95,248,511 (-)RGD
Build 361394,024,309 - 94,046,512 (-)NCBI Archive
Celera1376,074,266 - 76,096,482 (-)RGD
HuRef1375,823,580 - 75,845,722 (-)ENTREZGENE
CHM1_11395,195,749 - 95,217,990 (-)NCBI
T2T-CHM13v2.01393,777,561 - 93,799,659 (-)NCBI
Sequence:
RefSeq Acc Id: NR_130731
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381394,574,054 - 94,596,152 (-)NCBI
CHM1_11395,195,749 - 95,217,990 (-)NCBI
T2T-CHM13v2.01393,777,561 - 93,799,659 (-)NCBI
Sequence:
RefSeq Acc Id: NR_130732
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381394,574,054 - 94,596,152 (-)NCBI
CHM1_11395,195,749 - 95,217,990 (-)NCBI
T2T-CHM13v2.01393,777,561 - 93,799,659 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011521065   ⟹   XP_011519367
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381394,574,054 - 94,596,152 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011521066   ⟹   XP_011519368
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381394,574,054 - 94,596,273 (-)NCBI
Sequence:
RefSeq Acc Id: XM_054374380   ⟹   XP_054230355
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01393,777,561 - 93,799,780 (-)NCBI
RefSeq Acc Id: XM_054374381   ⟹   XP_054230356
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01393,777,561 - 93,799,636 (-)NCBI
RefSeq Acc Id: NP_055120   ⟸   NM_014305
- Peptide Label: isoform 1
- UniProtKB: Q5T3Z2 (UniProtKB/Swiss-Prot),   Q2TU31 (UniProtKB/Swiss-Prot),   Q05DQ3 (UniProtKB/Swiss-Prot),   Q9H1T9 (UniProtKB/Swiss-Prot),   O95455 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001291359   ⟸   NM_001304430
- Peptide Label: isoform 2
- UniProtKB: O95455 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011519368   ⟸   XM_011521066
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011519367   ⟸   XM_011521065
- Peptide Label: isoform X1
- Sequence:
Ensembl Acc Id: ENSP00000261296   ⟸   ENST00000261296
RefSeq Acc Id: XP_054230355   ⟸   XM_054374380
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054230356   ⟸   XM_054374381
- Peptide Label: isoform X1

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O95455-F1-model_v2 AlphaFold O95455 1-350 view protein structure

Promoters
RGD ID:6791152
Promoter ID:HG_KWN:18276
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_014305,   OTTHUMT00000106905,   UC001VLX.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361394,046,231 - 94,047,492 (-)MPROMDB
RGD ID:7226657
Promoter ID:EPDNEW_H19074
Type:initiation region
Name:TGDS_1
Description:TDP-glucose 4,6-dehydratase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H19075  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381394,596,152 - 94,596,212EPDNEW
RGD ID:7226659
Promoter ID:EPDNEW_H19075
Type:initiation region
Name:TGDS_2
Description:TDP-glucose 4,6-dehydratase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H19074  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381394,596,264 - 94,596,324EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:20324 AgrOrtholog
COSMIC TGDS COSMIC
Ensembl Genes ENSG00000088451 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000261296 ENTREZGENE
  ENST00000261296.7 UniProtKB/Swiss-Prot
Gene3D-CATH NAD(P)-binding Rossmann-like Domain UniProtKB/Swiss-Prot
  UDP-galactose 4-epimerase, domain 1 UniProtKB/Swiss-Prot
GTEx ENSG00000088451 GTEx
HGNC ID HGNC:20324 ENTREZGENE
Human Proteome Map TGDS Human Proteome Map
InterPro dTDP_Gluc_deHydtase UniProtKB/Swiss-Prot
  NAD(P)-bd_dom UniProtKB/Swiss-Prot
  NAD(P)-bd_dom_sf UniProtKB/Swiss-Prot
KEGG Report hsa:23483 UniProtKB/Swiss-Prot
NCBI Gene 23483 ENTREZGENE
OMIM 616146 OMIM
PANTHER DTDP-D-GLUCOSE 4,6-DEHYDRATASE UniProtKB/Swiss-Prot
  DTDP-D-GLUCOSE 4,6-DEHYDRATASE-RELATED UniProtKB/Swiss-Prot
Pfam GDP_Man_Dehyd UniProtKB/Swiss-Prot
PharmGKB PA128395791 PharmGKB
Superfamily-SCOP SSF51735 UniProtKB/Swiss-Prot
UniProt O95455 ENTREZGENE
  Q05DQ3 ENTREZGENE
  Q2TU31 ENTREZGENE
  Q5T3Z2 ENTREZGENE
  Q9H1T9 ENTREZGENE
  TGDS_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary Q05DQ3 UniProtKB/Swiss-Prot
  Q2TU31 UniProtKB/Swiss-Prot
  Q5T3Z2 UniProtKB/Swiss-Prot
  Q9H1T9 UniProtKB/Swiss-Prot