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.

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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.432_435del r.(?) p.(Phe144Leufs*14) ACMG likely pathogenic g.10393729_10393732del g.10413081_10413084del MKKS, c.432_435delTAGT, p.Phe144Leufs*14, homozygous - MKKS_000134 - PubMed: Perea-Romero 2021 - - Unknown ? - - 0 - LOVD
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