RGD:156230220 Rat Genome Database

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Variant: RGD:156230220 -  Homo sapiens

RGD ID: 156230220
ClinVar ID: CV1885050
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HSALR1  PIEZO1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 16 88,798,948
GRCh38 16 88,732,540
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_1137t1:c.2791-5C>T
NM_001142864.4:c.2791-5C>T
LRG_1137:g.57681C>T
NG_042229.1:g.57681C>T
More... 		10/12/2022 intron variant likely benign 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:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003085333 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene LOC100289580 CLINVAR
  PIEZO1 CLINVAR
OMIM 611184 CLINVAR