RGD:13797526 Rat Genome Database

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Variant: RGD:13797526 -  Homo sapiens

RGD ID: 13797526
RS ID: rs150529554
ClinVar ID: CV552025
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GJB2  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 13 20,763,366
GRCh38 13 20,189,227
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_008358.1:g.8749G>T
NP_003995.2:p.Glu119Ter
LRG_1350p1:p.Glu119Ter
NC_000013.11:g.20189227C>A
More... 		09/10/2018 nonsense pathogenic|likely pathogenic Autosomal recessive non-syndromic sensorineural deafness type DFNB; Autosomal recessive nonsyndromic deafness; Deafness, autosomal recessive
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:GJB2
Accession:NM_004004
Location:EXON
Amino Acid Prediction: E to * (nonsynonymous)
Amino Acid Position: 119
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDWGTLQTILGGVNKHSTSIGKIWLTVLFIFRIMILVVAAKEVWGDEQADFVCNTLQPGCKNVCYDHYFPISHIRLWALQ
LIFVSTPALLVAMHVAYRRHEKKRKFIKGEIKSEFKDI*EIKTQKVRIEGSLWWTYTSSIFFRVIFEAAFMYVFYVMYDG
FSMQRLVKCNAWPCPNTVDCFVSRPTEKTVFTVFMIAVSGICILLNVTELCYLLIRYCSGKSKKPV*

Gene Symbol:GJB2
Accession:XM_011535049
Location:EXON
Amino Acid Prediction: E to * (nonsynonymous)
Amino Acid Position: 119
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDWGTLQTILGGVNKHSTSIGKIWLTVLFIFRIMILVVAAKEVWGDEQADFVCNTLQPGCKNVCYDHYFPISHIRLWALQ
LIFVSTPALLVAMHVAYRRHEKKRKFIKGEIKSEFKDI*EIKTQKVRIEGSLWWTYTSSIFFRVIFEAAFMYVFYVMYDG
FSMQRLVKCNAWPCPNTVDCFVSRPTEKTVFTVFMIAVSGICILLNVTELCYLLIRYCSGKSKKPV*
Variant Samples
Additional References at PubMed
PMID:30303587  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000679816 CLINVAR
  RCV001291333 CLINVAR
dbSNP (RS) rs150529554 CLINVAR
MedGen C0011053 CLINVAR
  C1846647 CLINVAR
NCBI Gene GJB2 CLINVAR
OMIM 121011 CLINVAR
  607197 CLINVAR