Variant #0000046844 (NC_000020.10:g.10394096T>C, MKKS(NM_170784.2):c.67A>G)

Chromosome 20
Allele Both (homozygous)
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.10394096T>C
DNA change (hg38) g.10413448T>C
Published as c.67T>C / g.10394096A>G
ISCN -
DB-ID MKKS_000048 See all 3 reported entries
Variant remarks -
Reference Journal: Lim 2014
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation no
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00061 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.67A>G r.(?) p.(Arg23Gly)