RGD:10048431 Rat Genome Database

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Variant: RGD:10048431 -  Homo sapiens

RGD ID: 10048431
RS ID: rs757968008
ClinVar ID: CV193346
Genic Status: GENIC
Type: insertion (SO:0000667) 
Associated Genes: KCNT1  
Reference Nucleotide: C
Variant Nucleotide: CTGCCC
Position
Assembly Chr Position
GRCh37 9 138,678,040
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000009.12:g.135786175TGCCC[5]
NC_000009.11:g.138678021TGCCC[5]
NC_000009.11:g.138678016_138678017insGCCCT
NG_033070.1:g.88991TGCCC[5]
More... 		03/31/2016 intron variant benign|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; none provided

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

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000176946 CLINVAR
  RCV001636710 CLINVAR
  RCV002056957 CLINVAR
  RCV002269956 CLINVAR
  RCV002269957 CLINVAR
dbSNP (RS) rs757968008 CLINVAR
MedGen C3554195 CLINVAR
  C3554306 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene KCNT1 CLINVAR
OMIM 608167 CLINVAR
  614959 CLINVAR
  615005 CLINVAR