RGD:151233725 Rat Genome Database

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Variant: RGD:151233725 -  Homo sapiens

RGD ID: 151233725
RS ID: rs76070043
ClinVar ID: CV1317513
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HSALR1  PIEZO1  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 16 88,798,341
GRCh38 16 88,731,933
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_1137t1:c.2992-23A>G
NM_001142864.4:c.2992-23A>G
LRG_1137:g.58288A>G
NG_042229.1:g.58288A>G
More... 		06/09/2022 intron variant benign|likely 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; PIEZO1-related condition; 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

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 RCV001788892 CLINVAR
  RCV001788893 CLINVAR
  RCV002246505 CLINVAR
  RCV003968553 CLINVAR
dbSNP (RS) rs76070043 CLINVAR
MedGen C4225184 CLINVAR
  C4551512 CLINVAR
  CN169374 CLINVAR
NCBI Gene LOC100289580 CLINVAR
  PIEZO1 CLINVAR
OMIM 177720 CLINVAR
  194380 CLINVAR
  611184 CLINVAR
  616843 CLINVAR