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     
+/. 6 c.1361T>C r.(?) p.(Leu454Pro) - pathogenic g.10386247A>G - BBS6:p.L454P (c.1361T>C) - MKKS_000110 - PubMed: Pereiro-2010 - - Germline yes 0/100 ethnically matched control chromosomes. - 0 - LOVD
+?/. 6 c.1361T>C r.(?) p.(Leu454Pro) - likely pathogenic g.10386247A>G - p.(Leu454Pro) - MKKS_000110 - PubMed: Castro Sanchez 2015 - - Germline - - - 0 - LOVD
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