Variant #0000733325 (NC_000020.10:g.10394053T>C, MKKS(NM_170784.2):c.110A>G)

Individual ID 00334090
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.10394053T>C
DNA change (hg38) g.10413405T>C
Published as -
ISCN -
DB-ID MKKS_000005 See all 14 reported entries
Variant remarks -
Reference PubMed: Stone 2017
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 7.0E-5 View details
Owner LOVD
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MKKS NM_170784.2 +?/. - c.110A>G r.(?) p.(Tyr37Cys)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000335316 DNA SEQ-NG - - MKKS 1 LOVD