RGD:38488483 Rat Genome Database

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Variant: RGD:38488483 -  Homo sapiens

RGD ID: 38488483
RS ID: rs754052391
ClinVar ID: CV944864
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GJA1  LOC127407153  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 6 121,768,725
GRCh38 6 121,447,579
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000165.5:c.732C>A
NG_008308.1:g.16981C>A
NC_000006.12:g.121447579C>A
NC_000006.11:g.121768725C>A
More... 		09/24/2019 missense variant uncertain significance 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: S to R (nonsynonymous)
Amino Acid Position: 244
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGDWSALGKLLDKVQAYSTAGGKVWLSVLFIFRILLLGTAVESAWGDEQSAFRCNTQQPGCENVCYDKSFPISHVRFWVL
QIIFVSVPTLLYLAHVFYVMRKEEKLNKKEEELKVAQTDGVNVDMHLKQIEIKKFKYGIEEHGKVKMRGGLLRTYIISIL
FKSIFEVAFLLIQWYIYGFSLSAVYTCKRDPCPHQVDCFLSRPTEKTIFIIFMLVVSLVSLALNIIELFYVFFKGVKDRV
KGKRDPYHATSGALSPAKDCGSQKYAYFNGCSSPTAPLSPMSPPGYKLVTGDRNNSSCRNYNKQASEQNWANYSAEQNRM
GQAGSTISNSHAQPFDFPDDNQNSKKLAAGHELQPLAIVDQRPSSRASSRASSRPRPDDLEI*
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001238037 CLINVAR
  RCV003414040 CLINVAR
dbSNP (RS) rs754052391 CLINVAR
MedGen C2749477 CLINVAR
NCBI Gene GJA1 CLINVAR
OMIM 121014 CLINVAR
  257850 CLINVAR