RGD:15106920 Rat Genome Database

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Variant: RGD:15106920 -  Homo sapiens

RGD ID: 15106920
RS ID: rs543289166
ClinVar ID: CV776411
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PIEZO1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 16 88,808,507
GRCh38 16 88,742,099
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000016.9:g.88808507C>T
NM_001142864.4:c.284-4G>A
NG_042229.1:g.48122G>A
NC_000016.10:g.88742099C>T
More... 		11/03/2021 intron variant benign|likely benign 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  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000937871 CLINVAR
  RCV003913171 CLINVAR
dbSNP (RS) rs543289166 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene PIEZO1 CLINVAR
OMIM 611184 CLINVAR