Variant #0000815051 (NC_000020.10:g.10393894T>C, MKKS(NM_170784.2):c.269A>G)

Individual ID 00385948
Chromosome 20
Allele Maternal (inferred)
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.10393894T>C
DNA change (hg38) -
Published as c.269A>G; p.D90G
ISCN -
DB-ID MKKS_000046 See all 4 reported entries
Variant remarks -
Reference PubMed: Gonzalez del Pozo 2013
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Julia Lopez
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MKKS NM_170784.2 +/. 3 c.269A>G r.(?) p.(Asp90Gly)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000387176 DNA SEQ blood - MKKS 2 LOVD