Variant #0000332896 (NC_000009.11:g.138660769A>G, KCNT1(NM_020822.2):c.1496A>G)

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.138660769A>G
DNA change (hg38) g.135768923A>G
Published as KCNT1(NM_020822.2):c.1496A>G (p.(His499Arg))
ISCN -
DB-ID KCNT1_000064
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_Leiden
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Leiden
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
KCNT1 NM_020822.2 ?/. - c.1496A>G r.(?) p.(His499Arg)