RGD:21405751 Rat Genome Database

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Variant: RGD:21405751 -  Homo sapiens

RGD ID: 21405751
RS ID: rs1313856152
ClinVar ID: CV799993
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HSALR1  PIEZO1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 16 88,800,303
GRCh38 16 88,733,895
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_1137t1:c.2329+11C>T
NM_001142864.4:c.2329+11C>T
LRG_1137:g.56326C>T
NG_042229.1:g.56326C>T
More... 		03/06/2019 intron variant benign AllHighlyPenetrant

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 Information

Database Acc Id Source(s)
ClinVar RCV001001109 CLINVAR
dbSNP (RS) rs1313856152 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene LOC100289580 CLINVAR
  PIEZO1 CLINVAR
OMIM 611184 CLINVAR