RGD:152978137 Rat Genome Database

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Variant: RGD:152978137 -  Homo sapiens

RGD ID: 152978137
RS ID: rs147726156
ClinVar ID: CV1671429
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PIEZO1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 16 88,793,117
GRCh38 16 88,726,709
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_1137t1:c.3699+6C>T
NM_001142864.4:c.3699+6C>T
LRG_1137:g.63512C>T
NG_042229.1:g.63512C>T
More... 		04/13/2022 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:9536098   PMID:17576681   PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002227388 CLINVAR
  RCV003926333 CLINVAR
dbSNP (RS) rs147726156 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene PIEZO1 CLINVAR
OMIM 611184 CLINVAR