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.

3 entries on 1 page. Showing entries 1 - 3.
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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     
+/. 5i c.1272+1G>A r.spl? p.? - pathogenic g.10388263C>T - c.1272 +1G >A - MKKS_000098 - PubMed: M'hamdi 2014 - - Unknown - - - 0 - LOVD
+/. 5i c.1272+1G>A r.spl? p.? - pathogenic g.10388263C>T - c.[1272+1G>A];[1272+1G>A] - MKKS_000098 - PubMed: Redin-2012 - - Germline - - - 0 - LOVD
+/. 5i c.1272+1G>A r.spl? p.? - pathogenic (recessive) g.10388263C>T - c.1272+1G>A - MKKS_000098 - PubMed: M'hamdi-2014 - - Germline - - - 0 - LOVD
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