RGD:15184969 Rat Genome Database

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Variant: RGD:15184969 -  Homo sapiens

RGD ID: 15184969
RS ID: rs1306742227
ClinVar ID: CV776208
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PIEZO1  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 16 88,789,741
GRCh38 16 88,723,333
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001142864.4:c.4336-5G>C
NG_042229.1:g.66888G>C
NC_000016.10:g.88723333C>G
NC_000016.9:g.88789741C>G
More... 		06/28/2018 intron variant likely 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 RCV000930933 CLINVAR
dbSNP (RS) rs1306742227 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene PIEZO1 CLINVAR
OMIM 611184 CLINVAR