Variant #0000822961 (NC_000020.10:g.10393868A>G, MKKS(NM_170784.2):c.295T>C)

Individual ID 00391376
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.10393868A>G
DNA change (hg38) g.10413220A>G
Published as MKKS c.29ST >C p.(Cys99Arg)
ISCN -
DB-ID MKKS_000097 See all 5 reported entries
Variant remarks homozygous
Reference PubMed: Méjécase 2020
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation ?
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
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MKKS NM_170784.2 +?/. - c.295T>C r.(?) p.(Cys99Arg)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000392618 DNA SEQ-NG - retrospective case note review, targeted gene panel testing MKKS 1 LOVD