RGD:12844958 Rat Genome Database

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Variant: RGD:12844958 -  Homo sapiens

RGD ID: 12844958
RS ID: rs374412920
ClinVar ID: CV370720
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KCNT1  LOC107987140  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 9 138,683,747
GRCh38 9 135,791,901
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_033070.1:g.94717T>G
NC_000009.12:g.135791901T>G
NC_000009.11:g.138683747T>G
NM_001272003.2:c.3515+20T>G
More... 		05/31/2016 intron variant likely benign AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:LOC107987140
Accession:XR_007061851
Location:EXON;NON-CODING

Gene Symbol:KCNT1
Accession:XM_011518880
Location:INTRON

Gene Symbol:KCNT1
Accession:XM_024447617
Location:INTRON

Gene Symbol:KCNT1
Accession:XM_011518881
Location:INTRON

Gene Symbol:KCNT1
Accession:XM_017014931
Location:INTRON

Gene Symbol:KCNT1
Accession:XM_017014932
Location:INTRON

Gene Symbol:KCNT1
Accession:NM_001272003
Location:INTRON

Gene Symbol:KCNT1
Accession:XM_024447618
Location:INTRON

Gene Symbol:KCNT1
Accession:XM_011518879
Location:INTRON

Gene Symbol:KCNT1
Accession:XM_017014933
Location:INTRON

Gene Symbol:KCNT1
Accession:XM_011518878
Location:INTRON

Gene Symbol:KCNT1
Accession:NM_020822
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000438936 CLINVAR
dbSNP (RS) rs374412920 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene KCNT1 CLINVAR
OMIM 608167 CLINVAR