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     
-/. 6 c.1462G>A r.(?) p.(Ala488Thr) - benign g.10386146C>T g.10405498C>T MKKS(NM_018848.3):c.1462G>A (p.A488T) - MKKS_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
?/. 6 c.1462G>A r.(?) p.(Ala488Thr) - VUS g.10386146C>T - [A488T]+[=] - MKKS_000040 normal 2nd chromosome PubMed: Billingsley-2010 - - Germline - - - 0 - LOVD
+?/. 6 c.1462G>A r.(?) p.(Ala488Thr) - likely pathogenic g.10386146C>T - [p.D480MfsX3];[p.D480MfsX3] - MKKS_000040 - PubMed: Deveault-2011 - - Unknown - - - 0 - LOVD
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