RGD:11612657 Rat Genome Database

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Variant: RGD:11612657 -  Homo sapiens

RGD ID: 11612657
RS ID: rs62620999
ClinVar ID: CV326237
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SCNN1A  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 12 6,456,926
GRCh38 12 6,347,760
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000012.12:g.6347760G>A
NC_000012.11:g.6456926G>A
NM_001159575.2:c.*113C>T
NM_001038.5:c.*113C>T
More... 		01/13/2018 3 prime utr variant benign|likely benign|uncertain significance PHA I, AUTOSOMAL RECESSIVE; Pseudohypoaldosteronism, Type I, Autosomal Recessive; Pseudohypoaldosteronism, Type I, Recessive; PSEUDOHYPOALDOSTERONISM, TYPE IB1, AUTOSOMAL RECESSIVE
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SCNN1A
Accession:NM_001159576
Location:3UTRS;EXON

Gene Symbol:SCNN1A
Accession:NM_001159575
Location:3UTRS;EXON

Gene Symbol:SCNN1A
Accession:NM_001038
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000260787 CLINVAR
  RCV000318293 CLINVAR
dbSNP (RS) rs62620999 CLINVAR
MedGen C2751666 CLINVAR
  C5774176 CLINVAR
NCBI Gene SCNN1A CLINVAR
OMIM 264350 CLINVAR
  600228 CLINVAR
  613021 CLINVAR