RGD:21069323 Rat Genome Database

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Variant: RGD:21069323 -  Homo sapiens

RGD ID: 21069323
RS ID: rs1581138932
ClinVar ID: CV792665
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SLC12A2  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 5 127,512,795
GRCh38 5 128,177,103
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000005.10:g.128177103A>G
NC_000005.9:g.127512795A>G
NM_001046.2:c.2930-2A>G
NM_001256461.2:c.2930-1464A>G
More... 		11/09/2020 intron variant pathogenic|association Deafness, autosomal dominant 78
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:SLC12A2
Accession:XM_047417592
Location:INTRON

Gene Symbol:SLC12A2
Accession:NM_001046
Location:INTRON

Gene Symbol:SLC12A2
Accession:XM_011543588
Location:INTRON

Gene Symbol:SLC12A2
Accession:NM_001256461
Location:INTRON

Gene Symbol:SLC12A2
Accession:XM_047417591
Location:INTRON

Gene Symbol:SLC12A2
Accession:NR_046207
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:32294086  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000991282 CLINVAR
  RCV001264769 CLINVAR
dbSNP (RS) rs1581138932 CLINVAR
MedGen C3887873 CLINVAR
  C5436768 CLINVAR
NCBI Gene SLC12A2 CLINVAR
OMIM 600840 CLINVAR
  619081 CLINVAR
OMIM Allele 600840.0005 CLINVAR