RGD:8687749 Rat Genome Database

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Variant: RGD:8687749 -  Homo sapiens

RGD ID: 8687749
RS ID: rs147528229
ClinVar ID: CV138211
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GNA11  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 19 3,110,203
GRCh38 19 3,110,205
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_033852.2:g.20796G>A
NC_000019.10:g.3110205G>A
NC_000019.9:g.3110203G>A
NP_002058.2:p.Ala65Thr
More... 		03/06/2023 missense variant benign|likely benign|not provided AllHighlyPenetrant; none provided

Variant Details
Variant Transcripts
Gene Symbol:GNA11
Accession:NM_002067
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 65
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTLESMMACCLSDEVKESKRINAEIEKQLRRDKRDARRELKLLLLGTGESGKSTFIKQMRIIHGTGYSEEDKRGFTKLVY
QNIFTAMQAMIRAMETLKILYKYEQNKANALLIREVDVEKVTTFEHQYVSAIKTLWEDPGIQECYDRRREYQLSDSAKYY
LTDVDRIATLGYLPTQQDVLRVRVPTTGIIEYPFDLENIIFRMVDVGGQRSERRKWIHCFENVTSIMFLVALSEYDQVLV
ESDNENRMEESKALFRTIITYPWFQNSSVILFLNKKDLLEDKILYSHLVDYFPEFDGPQRDAQAAREFILKMFVDLNPDS
DKIIYSHFTCATDTENIRFVFAAVKDTILQLNLKEYNLV*
Variant Samples
Additional References at PubMed
PMID:24728327   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000121154 CLINVAR
  RCV000889157 CLINVAR
dbSNP (RS) rs147528229 CLINVAR
MedGen C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene GNA11 CLINVAR
OMIM 139313 CLINVAR