RGD:41407329 Rat Genome Database

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Variant: RGD:41407329 -  Homo sapiens

RGD ID: 41407329
RS ID: rs149858134
ClinVar ID: CV982074
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PIEZO1  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 16 88,815,904
GRCh38 16 88,749,496
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_042229.1:g.40725C>G
NC_000016.10:g.88749496G>C
NC_000016.9:g.88815904G>C
LRG_1137t1:c.65-17C>G
More...
09/21/2021 intron variant 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 RCV001810648 CLINVAR
dbSNP (RS) rs149858134 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene PIEZO1 CLINVAR
OMIM 611184 CLINVAR