RGD:151809887 Rat Genome Database

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Variant: RGD:151809887 -  Homo sapiens

RGD ID: 151809887
RS ID: rs199701338
ClinVar ID: CV1374959
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: RHO  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 3 129,251,592
GRCh38 3 129,532,749
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000539.3:c.913A>C
NG_009115.1:g.9111A>C
NC_000003.12:g.129532749A>C
NC_000003.11:g.129251592A>C
More... 		12/08/2021 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:RHO
Accession:NM_000539
Location:EXON
Amino Acid Prediction: I to L (nonsynonymous)
Amino Acid Position: 305
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNGTEGPNFYVPFSNATGVVRSPFEYPQYYLAEPWQFSMLAAYMFLLIVLGFPINFLTLYVTVQHKKLRTPLNYILLNLA
VADLFMVLGGFTSTLYTSLHGYFVFGPTGCNLEGFFATLGGEIALWSLVVLAIERYVVVCKPMSNFRFGENHAIMGVAFT
WVMALACAAPPLAGWSRYIPEGLQCSCGIDYYTLKPEVNNESFVIYMFVVHFTIPMIIIFFCYGQLVFTVKEAAAQQQES
ATTQKAEKEVTRMVIIMVIAFLICWVPYASVAFYIFTHQGSNFGPIFMTIPAFFAKSAAIYNPVLYIMMNKQFRNCMLTT
ICCGKNPLGDDEASATVSKTETSQVAPA*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001933092 CLINVAR
dbSNP (RS) rs199701338 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene RHO CLINVAR
OMIM 180380 CLINVAR