Variant #0000248271 (NC_000009.11:g.138594203A>G, KCNT1(NM_020822.2):c.99A>G)

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.138594203A>G
DNA change (hg38) g.135702357A>G
Published as KCNT1(NM_020822.2):c.99A>G (p.Q33=)
ISCN -
DB-ID KCNT1_000012 See all 2 reported entries
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) 0.00207 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     
SOHLH1 NM_001012415.2 -?/. - c.-2890T>C r.(?) p.(=)
KCNT1 NM_020822.2 -?/. - c.99A>G r.(?) p.(Gln33=)