RGD:9586962 Rat Genome Database

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Variant: RGD:9586962 -  Homo sapiens

RGD ID: 9586962
RS ID: rs587777707
ClinVar ID: CV165722
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GNA11  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 19 3,110,189
GRCh38 19 3,110,191
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NG_033852.2:g.20782G>T
NC_000019.10:g.3110191G>T
NC_000019.9:g.3110189G>T
NP_002058.2:p.Arg60Leu
More...
09/12/2014 missense variant pathogenic all ages|variable <1 / 1 000 000
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:GNA11
Accession:NM_002067
Location:EXON
Amino Acid Prediction: R to L (nonsynonymous)
Amino Acid Position: 60
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTLESMMACCLSDEVKESKRINAEIEKQLRRDKRDARRELKLLLLGTGESGKSTFIKQMLIIHGAGYSEEDKRGFTKLVY
QNIFTAMQAMIRAMETLKILYKYEQNKANALLIREVDVEKVTTFEHQYVSAIKTLWEDPGIQECYDRRREYQLSDSAKYY
LTDVDRIATLGYLPTQQDVLRVRVPTTGIIEYPFDLENIIFRMVDVGGQRSERRKWIHCFENVTSIMFLVALSEYDQVLV
ESDNENRMEESKALFRTIITYPWFQNSSVILFLNKKDLLEDKILYSHLVDYFPEFDGPQRDAQAAREFILKMFVDLNPDS
DKIIYSHFTCATDTENIRFVFAAVKDTILQLNLKEYNLV*

Variant Samples
Additional References at PubMed
PMID:6278146   PMID:24823460  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000144048 CLINVAR
dbSNP (RS) rs587777707 CLINVAR
MedGen C3809243 CLINVAR
NCBI Gene GNA11 CLINVAR
OMIM 139313 CLINVAR
  615361 CLINVAR
OMIM Allele 139313.0007 CLINVAR