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     
+?/. 5 c.1225_1226del r.(?) p.(Gly409Argfs*5) - likely pathogenic g.10388310_10388311del - BBS6:c.1225_1226delGG - MKKS_000116 - PubMed: Feuillan-2011 - - Germline - - - 0 - LOVD
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