RGD:156219025 Rat Genome Database

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Variant: RGD:156219025 -  Homo sapiens

RGD ID: 156219025
ClinVar ID: CV1899635
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GNA11  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 19 3,113,332
GRCh38 19 3,113,334
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_1111t1:c.326A>G
NM_002067.5:c.326A>G
LRG_1111:g.23925A>G
NG_033852.2:g.23925A>G
More... 		10/01/2022 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:GNA11
Accession:NM_002067
Location:EXON
Amino Acid Prediction: N to S (nonsynonymous)
Amino Acid Position: 109
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTLESMMACCLSDEVKESKRINAEIEKQLRRDKRDARRELKLLLLGTGESGKSTFIKQMRIIHGAGYSEEDKRGFTKLVY
QNIFTAMQAMIRAMETLKILYKYEQNKASALLIREVDVEKVTTFEHQYVSAIKTLWEDPGIQECYDRRREYQLSDSAKYY
LTDVDRIATLGYLPTQQDVLRVRVPTTGIIEYPFDLENIIFRMVDVGGQRSERRKWIHCFENVTSIMFLVALSEYDQVLV
ESDNENRMEESKALFRTIITYPWFQNSSVILFLNKKDLLEDKILYSHLVDYFPEFDGPQRDAQAAREFILKMFVDLNPDS
DKIIYSHFTCATDTENIRFVFAAVKDTILQLNLKEYNLV*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003084917 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene GNA11 CLINVAR
OMIM 139313 CLINVAR