Variant #0000091163 (NC_000020.10:g.10393894T>C, MKKS(NM_170784.2):c.269A>G)

Individual ID 00060204
Chromosome 20
Allele Maternal (confirmed)
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.10393894T>C
DNA change (hg38) g.10413246T>C
Published as -
ISCN -
DB-ID MKKS_000046 See all 4 reported entries
Variant remarks -
Reference PubMed: González-del Pozo 2014
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 María González-del Pozo
Database submission license No license selected
Created by María González-del Pozo
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     
0000060191 DNA SEQ-NG-S - - MKKS 2 María González-del Pozo