RGD:405068542 Rat Genome Database

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Variant: RGD:405068542 -  Homo sapiens

RGD ID: 405068542
ClinVar ID: CV2875672
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HSALR1  PIEZO1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 16 88,804,130
GRCh38 16 88,737,722
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_1137t1:c.1107+6C>T
NM_001142864.4:c.1107+6C>T
LRG_1137:g.52499C>T
NG_042229.1:g.52499C>T
More... 		01/20/2023 intron variant likely benign|uncertain significance none provided; PIEZO1-related condition
Disease Annotations     Click to see Annotation Detail View


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:9536098   PMID:17576681   PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003548389 CLINVAR
  RCV003929223 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene HSALR1 CLINVAR
  PIEZO1 CLINVAR
OMIM 611184 CLINVAR