RGD:13540058 Rat Genome Database

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Variant: RGD:13540058 -  Homo sapiens

RGD ID: 13540058
RS ID: rs765545901
ClinVar ID: CV503174
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KCNT1  LOC107987140  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 9 138,683,741
GRCh38 9 135,791,895
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.94711G>A
NC_000009.12:g.135791895G>A
NC_000009.11:g.138683741G>A
NM_020822.3:c.3587+14G>A
More... 		08/03/2017 intron variant likely benign AllHighlyPenetrant; Autosomal dominant nocturnal frontal lobe epilepsy 5; CILIARY DYSKINESIA, PRIMARY, 28, WITH SITUS INVERSUS; CILIARY DYSKINESIA, PRIMARY, 28, WITHOUT SITUS INVERSUS; Early infantile epileptic encephalopathy 14; Epilepsy, nocturnal frontal lobe, 5
Disease Annotations     Click to see Annotation Detail View


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

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_024447618
Location:INTRON

Gene Symbol:KCNT1
Accession:NM_020822
Location:INTRON

Gene Symbol:KCNT1
Accession:XM_017014933
Location:INTRON

Gene Symbol:KCNT1
Accession:XM_011518881
Location:INTRON

Gene Symbol:KCNT1
Accession:XM_017014932
Location:INTRON

Gene Symbol:KCNT1
Accession:XM_017014931
Location:INTRON

Gene Symbol:KCNT1
Accession:XM_011518879
Location:INTRON

Gene Symbol:KCNT1
Accession:XM_024447617
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000614165 CLINVAR
  RCV002529660 CLINVAR
dbSNP (RS) rs765545901 CLINVAR
MedGen C3554195 CLINVAR
  CN169374 CLINVAR
NCBI Gene KCNT1 CLINVAR
OMIM 608167 CLINVAR
  614959 CLINVAR
  615005 CLINVAR