Variant #0000828494 (NC_000020.10:g.10386078C>T, MKKS(NM_170784.2):c.1530G>A)

Individual ID 00395574
Chromosome 20
Allele Both (homozygous)
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method ACMG
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.10386078C>T
DNA change (hg38) g.10405430C>T
Published as MKKS, c.1530G>A, p.Trp510*, homozygous
ISCN -
DB-ID MKKS_000133
Variant remarks -
Reference PubMed: Perea-Romero 2021
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0 View details
Owner LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anna Tracewska
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MKKS NM_170784.2 +?/. - c.1530G>A r.(?) p.(Trp510*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000396812 DNA ? - clinical exome sequencing MKKS 1 LOVD