Variant #0000803965 (NC_000009.11:g.138590248G>A, KCNT1(NM_020822.2):c.-3857G>A)

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.138590248G>A
DNA change (hg38) -
Published as SOHLH1(NM_001012415.2):c.272C>T (p.A91V)
ISCN -
DB-ID KCNT1_000223
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) 0 View details
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SOHLH1 NM_001012415.2 ?/. - c.272C>T r.(?) p.(Ala91Val)
KCNT1 NM_020822.2 ?/. - c.-3857G>A r.(?) p.(=)