RGD:126922783 Rat Genome Database

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Variant: RGD:126922783 -  Homo sapiens

RGD ID: 126922783
RS ID: rs764494850
ClinVar ID: CV1043914
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GJA1  LOC127407154  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 6 121,769,026
GRCh38 6 121,447,880
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000165.3:c.1033A>G
LRG_1289t1:c.1033A>G
NM_000165.5:c.1033A>G
LRG_1289:g.17282A>G
More... 		08/16/2020 missense variant uncertain significance none provided; OCULODENTOOSSEOUS DYSPLASIA, AUTOSOMAL RECESSIVE; ODDD, AUTOSOMAL RECESSIVE; ODOD, AUTOSOMAL RECESSIVE
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:GJA1
Accession:NM_000165
Location:EXON
Amino Acid Prediction: K to E (nonsynonymous)
Amino Acid Position: 345
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGDWSALGKLLDKVQAYSTAGGKVWLSVLFIFRILLLGTAVESAWGDEQSAFRCNTQQPGCENVCYDKSFPISHVRFWVL
QIIFVSVPTLLYLAHVFYVMRKEEKLNKKEEELKVAQTDGVNVDMHLKQIEIKKFKYGIEEHGKVKMRGGLLRTYIISIL
FKSIFEVAFLLIQWYIYGFSLSAVYTCKRDPCPHQVDCFLSRPTEKTIFIIFMLVVSLVSLALNIIELFYVFFKGVKDRV
KGKSDPYHATSGALSPAKDCGSQKYAYFNGCSSPTAPLSPMSPPGYKLVTGDRNNSSCRNYNKQASEQNWANYSAEQNRM
GQAGSTISNSHAQPFDFPDDNQNSEKLAAGHELQPLAIVDQRPSSRASSRASSRPRPDDLEI*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001365076 CLINVAR
  RCV001762632 CLINVAR
  RCV003346521 CLINVAR
dbSNP (RS) rs764494850 CLINVAR
MedGen C0950123 CLINVAR
  C2749477 CLINVAR
  C3661900 CLINVAR
NCBI Gene GJA1 CLINVAR
OMIM 121014 CLINVAR
  257850 CLINVAR