Variant #0000622210 (NC_000009.11:g.138649162C>T, KCNT1(NM_020822.2):c.694C>T)

Chromosome 9
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.138649162C>T
DNA change (hg38) g.135757316C>T
Published as KCNT1(NM_020822.2):c.694C>T (p.R232W)
ISCN -
DB-ID KCNT1_000202
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
KCNT1 NM_020822.2 ?/. - c.694C>T r.(?) p.(Arg232Trp)