Variant #0000332890 (NC_000009.11:g.138590980G>A, KCNT1(NM_020822.2):c.-3125G>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.138590980G>A
DNA change (hg38) g.135699134G>A
Published as SOHLH1(NM_001012415.2):c.66-8C>T (p.(=))
ISCN -
DB-ID KCNT1_000159
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) 2.0E-5 View details
Owner VKGL-NL_Leiden
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Leiden
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SOHLH1 NM_001012415.2 ?/. - c.66-8C>T r.(=) p.(=)
KCNT1 NM_020822.2 ?/. - c.-3125G>A r.(?) p.(=)