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.

5 entries on 1 page. Showing entries 1 - 5.
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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.295T>C r.(?) p.(Cys99Arg) - likely pathogenic g.10393868A>G g.10413220A>G - - MKKS_000097 - PubMed: Patel 2016 - - Germline - - - 0 - LOVD
+/. 3 c.295T>C r.(?) p.(Cys99Arg) - pathogenic g.10393868A>G - [C99R]+[C99R] - MKKS_000097 - PubMed: Billingsley-2010 - - Germline - - - 0 - LOVD
+?/. 3 c.295T>C r.(?) p.(Cys99Arg) - likely pathogenic g.10393868A>G - [c.197+1G>T];[p.L600S] - MKKS_000097 - PubMed: Deveault-2011 - - Unknown - - - 0 - LOVD
+?/. - c.295T>C r.(?) p.(Cys99Arg) - likely pathogenic g.10393868A>G g.10413220A>G MKKS c.29ST >C p.(Cys99Arg) - MKKS_000097 homozygous PubMed: Méjécase 2020 - - Unknown ? - - 0 - LOVD
+/. 3 c.295T>C r.(?) p.(Cys99Arg) - pathogenic (recessive) g.10393868A>G - BBS6:c.[295T>C];[492T>A] - MKKS_000097 - PubMed: Mary-2019 - - Germline - - - 0 - LOVD
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