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.

3 entries on 1 page. Showing entries 1 - 3.
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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.890T>C r.(?) p.(Ile297Thr) ACMG VUS g.10393273A>G g.10412625A>G MKKS c.890T>C, p.(Ile297Thr), c.837del, p.(Gly280Glufs*4) - MKKS_000100 - PubMed: Jespersgaar 2019 - - Germline ? - - 0 - LOVD
+/. 3 c.890T>C r.(?) p.(Ile297Thr) - pathogenic g.10393273A>G - BBS6:c.890T>C - MKKS_000100 - PubMed: Muller-2010 - - Germline - - - 0 - LOVD
+?/. 3 c.890T>C r.(?) p.(Ile297Thr) - likely pathogenic g.10393273A>G - c.890T>C - MKKS_000100 - PubMed: Schaefer-2011 - - Germline - - - 0 - LOVD
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