Variant #0000332739 (NC_000009.11:g.108363427G>A, FKTN(NM_001079802.1):c.167G>A)

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.108363427G>A
DNA change (hg38) g.105601146G>A
Published as FKTN(NM_001079802.1):c.167G>A (p.(Arg56His)), FKTN(NM_001351497.1):c.98G>A (p.R33H)
ISCN -
DB-ID FKTN_000065 See all 3 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) 0.00051 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     
FKTN NM_001079802.1 -?/. - c.167G>A r.(?) p.(Arg56His)