RGD:405240595 Rat Genome Database

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Variant: RGD:405240595 -  Homo sapiens

RGD ID: 405240595
ClinVar ID: CV2889213
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SLC12A1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 15 48,561,962
GRCh38 15 48,269,765
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000338.3:c.2402+1G>A
NM_001184832.2:c.2402+1G>A
NM_001384136.1:c.2402+1G>A
NG_021301.1:g.68465G>A
More... 		01/31/2024 splice donor variant likely pathogenic none provided

Variant Details
Variant Transcripts
Gene Symbol:SLC12A1
Accession:NM_000338
Location:INTRON

Gene Symbol:SLC12A1
Accession:NM_001184832
Location:INTRON

Gene Symbol:SLC12A1
Accession:NM_001384136
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:8640224   PMID:9585600   PMID:16199547   PMID:19096086   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003557325 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene SLC12A1 CLINVAR
OMIM 600839 CLINVAR