RGD:12839144 Rat Genome Database

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Variant: RGD:12839144 -  Homo sapiens

RGD ID: 12839144
RS ID: rs9935872
ClinVar ID: CV377889
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PIEZO1  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 16 88,788,477
GRCh38 16 88,722,069
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_042229.1:g.68152T>C
NC_000016.10:g.88722069A>G
NC_000016.9:g.88788477A>G
NM_001142864.2:c.4956-3T>C
More... 		04/11/2017 intron variant benign AllHighlyPenetrant; Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema; DEHYDRATED HEREDITARY STOMATOCYTOSIS AND PSEUDOHYPERKALEMIA; Dehydrated hereditary stomatocytosis pseudohyperkalemia and perinatal edema; DEHYDRATED HEREDITARY STOMATOCYTOSIS WITH PSEUDOHYPERKALEMIA AND PERINATAL EDEMA; GENERALIZED LYMPHATIC DYSPLASIA OF FOTIOU; Lymphedema, hereditary, III; none provided; PSEUDOHYPERKALEMIA EDINBURGH; Pseudohyperkalemia, familial, 1, due to red cell leak; Stomatocytosis II
Disease Annotations     Click to see Annotation Detail View


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

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000428281 CLINVAR
  RCV001788215 CLINVAR
  RCV001788216 CLINVAR
  RCV001810918 CLINVAR
dbSNP (RS) rs9935872 CLINVAR
MedGen C3661900 CLINVAR
  C4225184 CLINVAR
  C4551512 CLINVAR
  CN169374 CLINVAR
NCBI Gene PIEZO1 CLINVAR
OMIM 177720 CLINVAR
  194380 CLINVAR
  611184 CLINVAR
  616843 CLINVAR