Variant #0000046843 (NC_000020.10:g.10393439C>A, MKKS(NM_170784.2):c.724G>T)

Chromosome 20
Allele Both (homozygous)
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.10393439C>A
DNA change (hg38) g.10412791C>A
Published as c.724C>A
ISCN -
DB-ID MKKS_000016 See all 22 reported entries
Variant remarks g.10393439G>T
Reference Journal: Lim 2014
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00523 View details
Owner Marianne Vos (LOVD-team)
Database submission license No license selected
Created by Marianne Vos (LOVD-team)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MKKS NM_170784.2 +?/. 3 c.724G>T r.(?) p.(Ala242Ser)