RGD:13525331 Rat Genome Database

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Variant: RGD:13525331 -  Homo sapiens

RGD ID: 13525331
RS ID: rs572059153
ClinVar ID: CV503155
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KCNT1  LOC127816739  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 9 138,675,852
GRCh38 9 135,784,006
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.86822G>A
NC_000009.11:g.138675852G>A
NC_000009.12:g.135784006G>A
NM_001272003.2:c.2707-18G>A
More... 		02/12/2018 intron variant likely benign AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:KCNT1
Accession:XM_011518880
Location:INTRON

Gene Symbol:KCNT1
Accession:NM_001272003
Location:INTRON

Gene Symbol:KCNT1
Accession:NM_020822
Location:INTRON

Gene Symbol:KCNT1
Accession:XM_024447617
Location:INTRON

Gene Symbol:KCNT1
Accession:XM_011518881
Location:INTRON

Gene Symbol:KCNT1
Accession:XM_017014933
Location:INTRON

Gene Symbol:KCNT1
Accession:XM_017014931
Location:INTRON

Gene Symbol:KCNT1
Accession:XM_017014932
Location:INTRON

Gene Symbol:KCNT1
Accession:XM_024447618
Location:INTRON

Gene Symbol:KCNT1
Accession:XM_011518878
Location:INTRON

Gene Symbol:KCNT1
Accession:XM_011518879
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000603012 CLINVAR
dbSNP (RS) rs572059153 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene KCNT1 CLINVAR
OMIM 608167 CLINVAR