RGD:127286813 Rat Genome Database

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Variant: RGD:127286813 -  Homo sapiens

RGD ID: 127286813
RS ID: rs368073019
ClinVar ID: CV1152739
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HSALR1  PIEZO1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 16 88,802,820
GRCh38 16 88,736,412
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_1137t1:c.1297-4G>A
NM_001142864.4:c.1297-4G>A
LRG_1137:g.53809G>A
NG_042229.1:g.53809G>A
More... 		11/06/2020 intron variant uncertain significance none provided

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

Gene Symbol:HSALR1
Accession:NR_103774
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001507370 CLINVAR
dbSNP (RS) rs368073019 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene LOC100289580 CLINVAR
  PIEZO1 CLINVAR
OMIM 611184 CLINVAR