RGD:405184284 Rat Genome Database

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Variant: RGD:405184284 -  Homo sapiens

RGD ID: 405184284
ClinVar ID: CV3040210
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC128966560  SLC12A1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 15 48,522,574
GRCh38 15 48,230,377
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.865-16T>C
NM_001184832.2:c.865-16T>C
NM_001384136.1:c.865-16T>C
NG_021301.1:g.29077T>C
More... 		05/31/2023 intron variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:LOC112267905
Accession:XR_932204
Location:EXON;NON-CODING

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:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003705861 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene SLC12A1 CLINVAR
OMIM 600839 CLINVAR