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.

4 entries on 1 page. Showing entries 1 - 4.
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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     
+?/. 3 c.748G>A r.(?) p.(Gly250Arg) - likely pathogenic g.10393415C>T - c.748G>A - MKKS_000102 - PubMed: Sathya Priya-2015 - - Germline yes - - 0 - LOVD
+/. 3 c.748G>A r.(?) p.(Gly250Arg) - pathogenic g.10393415C>T - BBS6:p.G250R (c.748G>A) - MKKS_000102 - PubMed: Pereiro-2010 - - Germline yes 0/100 ethnically matched control chromosomes. - 0 - LOVD
+?/. - c.748G>A r.(?) p.(Gly250Arg) - likely pathogenic g.10393415C>T g.10412767C>T MKKS c.748G>A, p.(G250R) - MKKS_000102 homozygous PubMed: Huang 2021 - - Germline yes - - 0 - LOVD
+/. - c.748G>A r.(?) p.(Gly250Arg) ACMG pathogenic g.10393415C>T g.10412767C>T MKKS, c.748G>A, p.Gly250Arg, homozygous - MKKS_000102 - PubMed: Perea-Romero 2021 - - Germline yes - - 0 - LOVD
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