Variant #0000285766 (NC_000009.11:g.138594163G>C, KCNT1(NM_020822.2):c.59G>C)

Chromosome 9
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.138594163G>C
DNA change (hg38) g.135702317G>C
Published as KCNT1(NM_020822.2):c.59G>C (p.G20A)
ISCN -
DB-ID KCNT1_000010
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) 0.00664 View details
Owner VKGL-NL_Utrecht
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Utrecht
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SOHLH1 NM_001012415.2 -?/. - c.-2850C>G r.(?) p.(=)
KCNT1 NM_020822.2 -?/. - c.59G>C r.(?) p.(Gly20Ala)