RGD:21074183 Rat Genome Database

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Variant: RGD:21074183 -  Homo sapiens

RGD ID: 21074183
RS ID: rs376456435
ClinVar ID: CV796845
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC107984500  SCNN1A  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 12 6,457,974
GRCh38 12 6,348,808
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001159575.2:c.1623-6C>G
NM_001038.6:c.1554-6C>G
NM_001159576.2:c.1731-6C>G
NG_011945.2:g.33550C>G
More...
01/01/2017 intron variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:SCNN1A
Accession:NM_001159575
Location:INTRON

Gene Symbol:SCNN1A
Accession:NM_001038
Location:INTRON

Gene Symbol:SCNN1A
Accession:NM_001159576
Location:INTRON

Gene Symbol:LOC107984500
Accession:XR_007063191
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000994828 CLINVAR
dbSNP (RS) rs376456435 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene SCNN1A CLINVAR
OMIM 600228 CLINVAR