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.
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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     
?/. 3 c.169A>G r.(?) p.(Thr57Ala) - VUS g.10393994T>C g.10413346T>C MKKS(NM_018848.3):c.169A>G (p.T57A) - MKKS_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+?/. 3 c.169A>G r.(?) p.(Thr57Ala) - likely pathogenic g.10393994T>C - BBS6:c.169A>G - MKKS_000006 - PubMed: Muller-2010, Katsanis 2000 - - Germline - - - 0 - LOVD
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