Variant #0000611976 (NC_000009.11:g.138649211C>T, KCNT1(NM_020822.2):c.743C>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.138649211C>T
DNA change (hg38) g.135757365C>T
Published as KCNT1(NM_020822.2):c.743C>T (p.A248V)
ISCN -
DB-ID KCNT1_000203
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) 1.0E-5 View details
Owner VKGL-NL_Groningen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Groningen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
KCNT1 NM_020822.2 ?/. - c.743C>T r.(?) p.(Ala248Val)