RGD:11587226 Rat Genome Database

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Variant: RGD:11587226 -  Homo sapiens

RGD ID: 11587226
RS ID: rs528853645
ClinVar ID: CV298864
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GJA1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 6 121,770,219
GRCh38 6 121,449,073
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_008308.1:g.18475T>C
NC_000006.12:g.121449073T>C
NC_000006.11:g.121770219T>C
NM_000165.3:c.*1077T>C
More... 		01/13/2018 3 prime utr variant likely benign|uncertain significance antenatal|infancy 1-5 / 10 000 Oculodentodigital syndrome; ODD syndrome; Ring and little finger syndactyly; Syndactyly of fingers four and five; SYNDACTYLY OF FINGERS IV AND V; Syndactyly of the ring and little finger
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:GJA1
Accession:NM_000165
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000293467 CLINVAR
  RCV000319116 CLINVAR
  RCV000385368 CLINVAR
dbSNP (RS) rs528853645 CLINVAR
MedGen C0812437 CLINVAR
  C1861366 CLINVAR
  C4551854 CLINVAR
NCBI Gene GJA1 CLINVAR
OMIM 121014 CLINVAR
  164200 CLINVAR
  186100 CLINVAR
  241550 CLINVAR