Variant #0000818652 (NC_000020.10:g.10394044G>C, MKKS(NM_170784.2):c.119C>G)

Individual ID 00388316
Chromosome 20
Allele Both (homozygous)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.10394044G>C
DNA change (hg38) -
Published as c.119C>G
ISCN -
DB-ID MKKS_000130 See all 3 reported entries
Variant remarks -
Reference PubMed: Ullah-2017
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 1.0E-5 View details
Owner LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Julia Lopez
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MKKS NM_170784.2 +/. 3 c.119C>G r.(?) p.(Ser40*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000389557 DNA arraySNP;SEQ blood - MKKS 1 LOVD