RGD:151822203 Rat Genome Database

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Variant: RGD:151822203 -  Homo sapiens

RGD ID: 151822203
RS ID: rs1913871940
ClinVar ID: CV1418735
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GNA11  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 19 3,114,967
GRCh38 19 3,114,969
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_1111t1:c.502G>A
NM_002067.5:c.502G>A
LRG_1111:g.25560G>A
NG_033852.2:g.25560G>A
More... 		11/26/2021 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:GNA11
Accession:NM_002067
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 168
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTLESMMACCLSDEVKESKRINAEIEKQLRRDKRDARRELKLLLLGTGESGKSTFIKQMRIIHGAGYSEEDKRGFTKLVY
QNIFTAMQAMIRAMETLKILYKYEQNKANALLIREVDVEKVTTFEHQYVSAIKTLWEDPGIQECYDRRREYQLSDSAKYY
LTDVDRITTLGYLPTQQDVLRVRVPTTGIIEYPFDLENIIFRMVDVGGQRSERRKWIHCFENVTSIMFLVALSEYDQVLV
ESDNENRMEESKALFRTIITYPWFQNSSVILFLNKKDLLEDKILYSHLVDYFPEFDGPQRDAQAAREFILKMFVDLNPDS
DKIIYSHFTCATDTENIRFVFAAVKDTILQLNLKEYNLV*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001954868 CLINVAR
dbSNP (RS) rs1913871940 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene GNA11 CLINVAR
OMIM 139313 CLINVAR