Variant #0000345954 (NC_000009.11:g.138651532G>A, KCNT1(NM_020822.2):c.862G>A)

Chromosome 9
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.138651532G>A
DNA change (hg38) g.135759686G>A
Published as KCNT1(NM_020822.2):c.862G>A (p.G288S)
ISCN -
DB-ID KCNT1_000049 See all 2 reported entries
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner VKGL-NL_Nijmegen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Nijmegen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
KCNT1 NM_020822.2 +/. - c.862G>A r.(?) p.(Gly288Ser)