Variant #0000797695 (NC_000020.10:g.10393273A>G, MKKS(NM_170784.2):c.890T>C)

Individual ID 00382325
Chromosome 20
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method ACMG
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.10393273A>G
DNA change (hg38) g.10412625A>G
Published as MKKS c.890T>C, p.(Ile297Thr), c.837del, p.(Gly280Glufs*4)
ISCN -
DB-ID MKKS_000100 See all 3 reported entries
Variant remarks -
Reference PubMed: Jespersgaar 2019
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation ?
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 2.0E-5 View details
Owner LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anna Tracewska
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MKKS NM_170784.2 ?/. - c.890T>C r.(?) p.(Ile297Thr)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000383539 DNA SEQ-NG-I blood 125 genes associated with inherited retinal disorders, see paper supplemental data MKKS 2 LOVD