RGD:151769013 Rat Genome Database

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Variant: RGD:151769013 -  Homo sapiens

RGD ID: 151769013
RS ID: rs756523929
ClinVar ID: CV1367605
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GJA1  LOC127407154  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 6 121,768,961
GRCh38 6 121,447,815
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_1289t1:c.968C>T
NM_000165.5:c.968C>T
LRG_1289:g.17217C>T
NG_008308.1:g.17217C>T
More... 		09/23/2021 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: A to V (nonsynonymous)
Amino Acid Position: 323
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGDWSALGKLLDKVQAYSTAGGKVWLSVLFIFRILLLGTAVESAWGDEQSAFRCNTQQPGCENVCYDKSFPISHVRFWVL
QIIFVSVPTLLYLAHVFYVMRKEEKLNKKEEELKVAQTDGVNVDMHLKQIEIKKFKYGIEEHGKVKMRGGLLRTYIISIL
FKSIFEVAFLLIQWYIYGFSLSAVYTCKRDPCPHQVDCFLSRPTEKTIFIIFMLVVSLVSLALNIIELFYVFFKGVKDRV
KGKSDPYHATSGALSPAKDCGSQKYAYFNGCSSPTAPLSPMSPPGYKLVTGDRNNSSCRNYNKQASEQNWANYSAEQNRM
GQVGSTISNSHAQPFDFPDDNQNSKKLAAGHELQPLAIVDQRPSSRASSRASSRPRPDDLEI*
Variant Samples
Additional References at PubMed
PMID:19615768   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001863895 CLINVAR
dbSNP (RS) rs756523929 CLINVAR
MedGen C2749477 CLINVAR
NCBI Gene GJA1 CLINVAR
OMIM 121014 CLINVAR
  257850 CLINVAR