RGD:38598926 Rat Genome Database

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Variant: RGD:38598926 -  Homo sapiens

RGD ID: 38598926
RS ID: rs1268045311
ClinVar ID: CV963437
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GJB2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 13 20,763,089
GRCh38 13 20,188,950
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_004004.6:c.632G>A
NG_008358.1:g.9026G>A
NC_000013.11:g.20188950C>T
NC_000013.10:g.20763089C>T
More... 		08/04/2020 missense variant likely pathogenic Non-syndromic genetic deafness; Nonsyndromic genetic deafness; Nonsyndromic hearing loss and deafness
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:GJB2
Accession:XM_011535049
Location:EXON
Amino Acid Prediction: C to Y (nonsynonymous)
Amino Acid Position: 211
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDWGTLQTILGGVNKHSTSIGKIWLTVLFIFRIMILVVAAKEVWGDEQADFVCNTLQPGCKNVCYDHYFPISHIRLWALQ
LIFVSTPALLVAMHVAYRRHEKKRKFIKGEIKSEFKDIEEIKTQKVRIEGSLWWTYTSSIFFRVIFEAAFMYVFYVMYDG
FSMQRLVKCNAWPCPNTVDCFVSRPTEKTVFTVFMIAVSGICILLNVTELYYLLIRYCSGKSKKPV*

Gene Symbol:GJB2
Accession:NM_004004
Location:EXON
Amino Acid Prediction: C to Y (nonsynonymous)
Amino Acid Position: 211
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDWGTLQTILGGVNKHSTSIGKIWLTVLFIFRIMILVVAAKEVWGDEQADFVCNTLQPGCKNVCYDHYFPISHIRLWALQ
LIFVSTPALLVAMHVAYRRHEKKRKFIKGEIKSEFKDIEEIKTQKVRIEGSLWWTYTSSIFFRVIFEAAFMYVFYVMYDG
FSMQRLVKCNAWPCPNTVDCFVSRPTEKTVFTVFMIAVSGICILLNVTELYYLLIRYCSGKSKKPV*
Variant Samples
Additional References at PubMed
PMID:24158611   PMID:30311386  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001251624 CLINVAR
dbSNP (RS) rs1268045311 CLINVAR
MedGen C5680182 CLINVAR
NCBI Gene GJB2 CLINVAR
OMIM 121011 CLINVAR