RGD:11614907 Rat Genome Database

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Variant: RGD:11614907 -  Homo sapiens

RGD ID: 11614907
RS ID: rs185790172
ClinVar ID: CV327578
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GJB2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 13 20,762,007
GRCh38 13 20,187,868
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.10108G>A
NC_000013.11:g.20187868C>T
NC_000013.10:g.20762007C>T
NM_004004.6:c.*1033G>A
More... 		01/13/2018 3 prime utr variant benign|likely benign|uncertain significance infancy|neonatal <1 / 1 000 000 Connexin 26 deafness; Deafness nonsyndromic, Connexin 26 linked; Deafness, autosomal dominant 3a; Deafness, autosomal recessive 1A; DFNB 1 Nonsyndromic Hearing Loss and Deafness; GJB6-Related DFNB 1 Nonsyndromic Hearing Loss and Deafness; HID SYNDROME; Hystrix-like ichthyosis with deafness; Nonsyndromic Hearing Loss and Deafness, DFNB1
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:GJB2
Accession:NM_004004
Location:3UTRS;EXON

Gene Symbol:GJB2
Accession:XM_011535049
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000281101 CLINVAR
  RCV000287144 CLINVAR
  RCV000373371 CLINVAR
dbSNP (RS) rs185790172 CLINVAR
MedGen C1865234 CLINVAR
  C2673759 CLINVAR
  C2675750 CLINVAR
NCBI Gene GJB2 CLINVAR
OMIM 121011 CLINVAR
  220290 CLINVAR
  601544 CLINVAR
  602540 CLINVAR