RGD:12843361 Rat Genome Database

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Variant: RGD:12843361 -  Homo sapiens

RGD ID: 12843361
RS ID: rs910734807
ClinVar ID: CV370177
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KCNT1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 9 138,676,750
GRCh38 9 135,784,904
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.87720T>C
NC_000009.12:g.135784904T>C
NC_000009.11:g.138676750T>C
NM_001272003.2:c.3021+15T>C
More... 		08/24/2017 intron variant likely benign AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:KCNT1
Accession:NM_020822
Location:INTRON

Gene Symbol:KCNT1
Accession:XM_017014931
Location:INTRON

Gene Symbol:KCNT1
Accession:XM_024447618
Location:INTRON

Gene Symbol:KCNT1
Accession:XM_024447617
Location:INTRON

Gene Symbol:KCNT1
Accession:XM_017014933
Location:INTRON

Gene Symbol:KCNT1
Accession:XM_011518881
Location:INTRON

Gene Symbol:KCNT1
Accession:NM_001272003
Location:INTRON

Gene Symbol:KCNT1
Accession:XM_011518878
Location:INTRON

Gene Symbol:KCNT1
Accession:XM_011518880
Location:INTRON

Gene Symbol:KCNT1
Accession:XM_011518879
Location:INTRON

Gene Symbol:KCNT1
Accession:XM_017014932
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000436085 CLINVAR
dbSNP (RS) rs910734807 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene KCNT1 CLINVAR
OMIM 608167 CLINVAR