RGD:151351188 Rat Genome Database

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Variant: RGD:151351188 -  Homo sapiens

RGD ID: 151351188
RS ID: rs200317312
ClinVar ID: CV1321096
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PIEZO1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 16 88,792,104
GRCh38 16 88,725,696
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_1137t1:c.3969-12G>A
NM_001142864.4:c.3969-12G>A
LRG_1137:g.64525G>A
NC_000016.10:g.88725696C>T
More... 		10/27/2022 intron variant benign|likely benign none provided

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

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001810774 CLINVAR
dbSNP (RS) rs200317312 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene PIEZO1 CLINVAR
OMIM 611184 CLINVAR