RGD:8600410 Rat Genome Database

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Variant: RGD:8600410 -  Homo sapiens

RGD ID: 8600410
RS ID: rs104894396
ClinVar ID: CV32041
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GJB2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 13 20,763,650
GRCh38 13 20,189,511
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NG_008358.1:g.8465G>A
NC_000013.11:g.20189511C>T
NC_000013.10:g.20763650C>T
NP_003995.2:p.Trp24Ter
More... 		12/16/2019 nonsense|stop-gain pathogenic|likely pathogenic|likely benign|conflicting interpretations of pathogenicity childhood|neonatal/infancy congenital deafness affects 1 in 1,000 births Autosomal dominant keratitis-ichthyosis-hearing loss syndrome; Autosomal dominant nonsyndromic hearing loss 3A; Autosomal recessive non-syndromic sensorineural deafness type DFNB; Autosomal recessive nonsyndromic deafness; Autosomal recessive nonsyndromic hearing loss 1B; Bart-Pumphrey syndrome; Connexin 26 deafness; Deafness 3 conductive with stapes fixation; Deafness conductive with stapes fixation; Deafness mixed with perilymphatic gusher; Deafness nonsyndromic, Connexin 26 linked; Deafness, autosomal dominant 3a; Deafness, autosomal recessive; Deafness, autosomal recessive 1A; Deafness, autosomal recessive 1b; Deafness, congenital, with keratopachydermia and constrictions of fingers and toes; Deafness, X-linked 2; Dfn 3 nonsyndromic hearing loss and deafness; DFNB 1 Nonsyndromic Hearing Loss and Deafness; Diffuse palmoplantar keratoderma with deafness (subtype); Focal palmoplantar keratoderma with sensorineural deafness (subtype); GJB6-Related DFNB 1 Nonsyndromic Hearing Loss and Deafness; Gusher syndrome; Hereditary palmoplantar keratoderma with deafness (subtype); HID SYNDROME; Hystrix-like ichthyosis with deafness; Ichthyosis, hystrix-like, with hearing loss; Keratitis-ichthyosis-deafness syndrome, autosomal dominant; Keratoderma hereditarium mutilans; Keratoderma palmoplantar deafness; Keratoderma palmoplantar, with deafness; KID syndrome, autosomal dominant; Knuckle pads, deafness AND leukonychia syndrome; Knuckle pads, leuconychia and sensorineural deafness; Mutilating keratoderma; Nance deafness; Non-syndromic genetic deafness; none provided; Nonsyndromic genetic deafness; Nonsyndromic hearing loss and deafness; Nonsyndromic Hearing Loss and Deafness, DFNB1; Palmoplantar keratoderma and sensorineural deafness; Palmoplantar keratoderma-deafness syndrome; Perilymphatic Gusher-deafness syndrome; Sensorineural deafness, profound, with or without a conductive component, associated with a unique developmental abnormality of the ear; Senter syndrome; X-linked mixed hearing loss with perilymphatic gusher

Variant Details
Variant Transcripts
Gene Symbol:GJB2
Accession:NM_004004
Location:EXON
Amino Acid Prediction: W to * (nonsynonymous)
Amino Acid Position: 24
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDWGTLQTILGGVNKHSTSIGKI*LTVLFIFRIMILVVAAKEVWGDEQADFVCNTLQPGCKNVCYDHYFPISHIRLWALQ
LIFVSTPALLVAMHVAYRRHEKKRKFIKGEIKSEFKDIEEIKTQKVRIEGSLWWTYTSSIFFRVIFEAAFMYVFYVMYDG
FSMQRLVKCNAWPCPNTVDCFVSRPTEKTVFTVFMIAVSGICILLNVTELCYLLIRYCSGKSKKPV*

Gene Symbol:GJB2
Accession:XM_011535049
Location:EXON
Amino Acid Prediction: W to * (nonsynonymous)
Amino Acid Position: 24
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDWGTLQTILGGVNKHSTSIGKI*LTVLFIFRIMILVVAAKEVWGDEQADFVCNTLQPGCKNVCYDHYFPISHIRLWALQ
LIFVSTPALLVAMHVAYRRHEKKRKFIKGEIKSEFKDIEEIKTQKVRIEGSLWWTYTSSIFFRVIFEAAFMYVFYVMYDG
FSMQRLVKCNAWPCPNTVDCFVSRPTEKTVFTVFMIAVSGICILLNVTELCYLLIRYCSGKSKKPV*
Variant Samples
Additional References at PubMed
PMID:3   PMID:9139825   PMID:10508996   PMID:11698809   PMID:11968091   PMID:12176179   PMID:12746422   PMID:12791041   PMID:12833397   PMID:14985372   PMID:15070423   PMID:15113126  
PMID:15146474   PMID:15479191   PMID:15617550   PMID:15855033   PMID:15967879   PMID:16088916   PMID:16125251   PMID:16379542   PMID:16380907   PMID:17146393   PMID:18294064   PMID:18414213  
PMID:18570691   PMID:18776652   PMID:18941476   PMID:18983339   PMID:19157576   PMID:19371219   PMID:19465004   PMID:19715472   PMID:19814620   PMID:19929407   PMID:19929408   PMID:20086291  
PMID:20563649   PMID:22613756   PMID:22695344   PMID:22975760   PMID:23504403   PMID:23668481   PMID:24033266   PMID:24123366   PMID:24529908   PMID:24840842   PMID:25636251   PMID:25741868  
PMID:26059209   PMID:26188157   PMID:26467025   PMID:28492532   PMID:29921236   PMID:30094485   PMID:30303587   PMID:30311386   PMID:30872814   PMID:30989077   PMID:31827275   PMID:33614373  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000018525 CLINVAR
  RCV000146028 CLINVAR
  RCV000211778 CLINVAR
  RCV000255370 CLINVAR
  RCV000411010 CLINVAR
  RCV000515359 CLINVAR
  RCV000678864 CLINVAR
  RCV000844631 CLINVAR
  RCV001004398 CLINVAR
  RCV001112641 CLINVAR
  RCV001291329 CLINVAR
  RCV002247354 CLINVAR
  RCV002470712 CLINVAR
  RCV003388568 CLINVAR
dbSNP (RS) rs104894396 CLINVAR
MedGen C0265964 CLINVAR
  C1384666 CLINVAR
  C1835672 CLINVAR
  C1846647 CLINVAR
  C1865234 CLINVAR
  C2673759 CLINVAR
  C2675750 CLINVAR
  C3661900 CLINVAR
  C3887873 CLINVAR
  C5680182 CLINVAR
  C5680250 CLINVAR
NCBI Gene GJB2 CLINVAR
OMIM 121011 CLINVAR
  124500 CLINVAR
  148210 CLINVAR
  148350 CLINVAR
  149200 CLINVAR
  220290 CLINVAR
  304400 CLINVAR
  601544 CLINVAR
  602540 CLINVAR
  607197 CLINVAR
  612645 CLINVAR
OMIM Allele 121011.0003 CLINVAR
SNOMED CT 24559001 CLINVAR