RGD:41405581 Rat Genome Database

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Variant: RGD:41405581 -  Homo sapiens

RGD ID: 41405581
RS ID: rs8060643
ClinVar ID: CV982070
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HSALR1  PIEZO1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 16 88,804,618
GRCh38 16 88,738,210
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001142864.4:c.848+17C>T
LRG_1137:g.52011C>T
NG_042229.1:g.52011C>T
NC_000016.10:g.88738210G>A
More... 		11/30/2021 intron variant benign 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:HSALR1
Accession:NR_103774
Location:EXON;NON-CODING

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 RCV001692369 CLINVAR
  RCV001788453 CLINVAR
  RCV001788454 CLINVAR
dbSNP (RS) rs8060643 CLINVAR
MedGen C3661900 CLINVAR
  C4225184 CLINVAR
  C4551512 CLINVAR
NCBI Gene LOC100289580 CLINVAR
  PIEZO1 CLINVAR
OMIM 177720 CLINVAR
  194380 CLINVAR
  611184 CLINVAR
  616843 CLINVAR