RGD:404979481 Rat Genome Database

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Variant: RGD:404979481 -  Homo sapiens

RGD ID: 404979481
ClinVar ID: CV3009590
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PIEZO1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 16 88,783,142
GRCh38 16 88,716,734
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_1137t1:c.6754-3C>T
NM_001142864.4:c.6754-3C>T
LRG_1137:g.73487C>T
NG_042229.1:g.73487C>T
More...
01/09/2024 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:9536098   PMID:17576681   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003690990 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene PIEZO1 CLINVAR
OMIM 611184 CLINVAR