RGD:127288320 Rat Genome Database

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Variant: RGD:127288320 -  Homo sapiens

RGD ID: 127288320
RS ID: rs1003038276
ClinVar ID: CV1152723
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PIEZO1  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 16 88,793,429
GRCh38 16 88,727,021
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_1137t1:c.3455+18C>G
NM_001142864.4:c.3455+18C>G
LRG_1137:g.63200C>G
NG_042229.1:g.63200C>G
More... 		01/05/2021 intron variant uncertain significance none provided

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

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001508423 CLINVAR
dbSNP (RS) rs1003038276 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene PIEZO1 CLINVAR
OMIM 611184 CLINVAR