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     
+/. - c.775del r.(?) p.(Thr259Leufs*21) - pathogenic (recessive) g.10393389del g.10412741del g.21483del - MKKS_000089 - - - - Germline - - - 0 - Evren Gümüş
?/. - c.775del r.(?) p.(Thr259Leufs*21) - VUS g.10393389del g.10412741del - - MKKS_000089 - PubMed: Riazuddin 2017 - - Germline - - - 0 - Johan den Dunnen
+/. - c.775del r.(?) p.(Thr259Leufs*21) - pathogenic g.10393389del g.10412741del MKKS (NM_170784) (LOVD #0000638714), c.775del, p.(Thr259Leufs*21), Frameshift - MKKS_000089 homozygous PubMed: Gumus 2021 - - Germline ? - - 0 - LOVD
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