RGD:15198074 Rat Genome Database

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Variant: RGD:15198074 -  Homo sapiens

RGD ID: 15198074
RS ID: rs764990602
ClinVar ID: CV760537
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PIEZO1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 16 88,788,209
GRCh38 16 88,721,801
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001142864.4:c.5214+7C>T
NG_042229.1:g.68420C>T
NC_000016.10:g.88721801G>A
NC_000016.9:g.88788209G>A
More... 		11/06/2020 intron variant likely benign|conflicting interpretations of pathogenicity none provided; PIEZO1-related condition
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PIEZO1
Accession:NM_001142864
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532   PMID:32410215  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000912152 CLINVAR
  RCV003970372 CLINVAR
dbSNP (RS) rs764990602 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene PIEZO1 CLINVAR
OMIM 611184 CLINVAR