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.1294A>T r.(?) p.(Ile432Phe) - VUS g.10386314T>A g.10405666T>A MKKS(NM_018848.3):c.1294A>T (p.I432F) - MKKS_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.1294A>T r.(?) p.(Ile432Phe) - likely benign g.10386314T>A g.10405666T>A MKKS(NM_018848.3):c.1294A>T (p.I432F) - MKKS_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 6 c.1294A>T r.(?) p.(Ile432Phe) - VUS g.10386314T>A - c.1294A>T(h) - MKKS_000075 - PubMed: Janssen-2011 - - Germline - 0.017 - 0 - LOVD
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