RGD:152115970 Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

Variant: RGD:152115970 -  Homo sapiens

RGD ID: 152115970
RS ID: rs139688042
ClinVar ID: CV1553318
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GJA1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 6 121,768,182
GRCh38 6 121,447,036
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_1289t1:c.189T>C
NM_000165.5:c.189T>C
LRG_1289:g.16438T>C
NG_008308.1:g.16438T>C
More...
08/16/2021 synonymous variant likely benign 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: N to N (synonymous)
Amino Acid Position: 63
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 RCV002080896 CLINVAR
dbSNP (RS) rs139688042 CLINVAR
MedGen C2749477 CLINVAR
NCBI Gene GJA1 CLINVAR
OMIM 121014 CLINVAR
  257850 CLINVAR