RGD:151735957 Rat Genome Database

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Variant: RGD:151735957 -  Homo sapiens

RGD ID: 151735957
RS ID: rs104893774
ClinVar ID: CV1464526
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: RHO  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 3 129,249,761
GRCh38 3 129,530,918
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.404G>C
NG_009115.1:g.7280G>C
NC_000003.12:g.129530918G>C
NC_000003.11:g.129249761G>C
More... 		11/10/2021 missense variant pathogenic none provided

Variant Details
Variant Transcripts
Gene Symbol:RHO
Accession:NM_000539
Location:EXON
Amino Acid Prediction: R to P (nonsynonymous)
Amino Acid Position: 135
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNGTEGPNFYVPFSNATGVVRSPFEYPQYYLAEPWQFSMLAAYMFLLIVLGFPINFLTLYVTVQHKKLRTPLNYILLNLA
VADLFMVLGGFTSTLYTSLHGYFVFGPTGCNLEGFFATLGGEIALWSLVVLAIEPYVVVCKPMSNFRFGENHAIMGVAFT
WVMALACAAPPLAGWSRYIPEGLQCSCGIDYYTLKPEVNNESFVIYMFVVHFTIPMIIIFFCYGQLVFTVKEAAAQQQES
ATTQKAEKEVTRMVIIMVIAFLICWVPYASVAFYIFTHQGSNFGPIFMTIPAFFAKSAAIYNPVIYIMMNKQFRNCMLTT
ICCGKNPLGDDEASATVSKTETSQVAPA*
Variant Samples
Additional References at PubMed
PMID:1862076   PMID:18175313   PMID:25101269   PMID:28492532   PMID:28559085   PMID:30977563   PMID:33420188  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001946576 CLINVAR
dbSNP (RS) rs104893774 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene RHO CLINVAR
OMIM 180380 CLINVAR