RGD:11600087 Rat Genome Database

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Variant: RGD:11600087 -  Homo sapiens

RGD ID: 11600087
RS ID: rs67407537
ClinVar ID: CV305810
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GJA1  LOC127407154  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 6 121,768,830
GRCh38 6 121,447,684
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.17086G>A
NC_000006.12:g.121447684G>A
NC_000006.11:g.121768830G>A
NM_000165.3:c.837G>A
More... 		11/09/2018 synonymous variant benign|likely benign antenatal|infancy 1-5 / 10 000 none provided; Oculodentodigital syndrome; OCULODENTOOSSEOUS DYSPLASIA, AUTOSOMAL RECESSIVE; ODD syndrome; ODDD, AUTOSOMAL RECESSIVE; ODOD, AUTOSOMAL RECESSIVE; 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:EXON
Amino Acid Prediction: S to S (synonymous)
Amino Acid Position: 279
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGDWSALGKLLDKVQAYSTAGGKVWLSVLFIFRILLLGTAVESAWGDEQSAFRCNTQQPGCENVCYDKSFPISHVRFWVL
QIIFVSVPTLLYLAHVFYVMRKEEKLNKKEEELKVAQTDGVNVDMHLKQIEIKKFKYGIEEHGKVKMRGGLLRTYIISIL
FKSIFEVAFLLIQWYIYGFSLSAVYTCKRDPCPHQVDCFLSRPTEKTIFIIFMLVVSLVSLALNIIELFYVFFKGVKDRV
KGKSDPYHATSGALSPAKDCGSQKYAYFNGCSSPTAPLSPMSPPGYKLVTGDRNNSSCRNYNKQASEQNWANYSAEQNRM
GQAGSTISNSHAQPFDFPDDNQNSKKLAAGHELQPLAIVDQRPSSRASSRASSRPRPDDLEI*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000271108 CLINVAR
  RCV000306229 CLINVAR
  RCV000365711 CLINVAR
  RCV000862762 CLINVAR
  RCV001548051 CLINVAR
dbSNP (RS) rs67407537 CLINVAR
MedGen C0812437 CLINVAR
  C1861366 CLINVAR
  C2749477 CLINVAR
  C3661900 CLINVAR
  C4551854 CLINVAR
NCBI Gene GJA1 CLINVAR
OMIM 121014 CLINVAR
  164200 CLINVAR
  186100 CLINVAR
  241550 CLINVAR
  257850 CLINVAR