RGD:405161996 Rat Genome Database

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Variant: RGD:405161996 -  Homo sapiens

RGD ID: 405161996
ClinVar ID: CV3062648
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PIEZO1  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 16 88,786,622
GRCh38 16 88,720,214
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_1137:g.70007A>C
NG_042229.1:g.70007A>C
NC_000016.10:g.88720214T>G
NC_000016.9:g.88786622T>G
More...
05/20/2023 missense variant pathogenic none provided

Variant Details
Variant Samples
Additional References at PubMed
PMID:28492532   PMID:30655378   PMID:32109669  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003727164 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene PIEZO1 CLINVAR
OMIM 611184 CLINVAR