All variants in the MKKS gene

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_170784.2 transcript reference sequence.

2 entries on 1 page. Showing entries 1 - 2.
Legend   How to query  

Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
-/. - c.757T>C r.(?) p.(Ser253Pro) - benign g.10393406A>G g.10412758A>G - - MKKS_000060 2 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs201785599 Germline - 2/2794 individuals - 0 - Mohammed Faruq
?/. 3 c.757T>C r.(?) p.(Ser253Pro) - VUS g.10393406A>G g.10412758A>G T757C - MKKS_000060 - PubMed: Katagiri 2014 - rs201785599 Germline - - - 0 - LOVD
Legend   How to query