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     
+/. - c.1239_1242dup r.(?) p.(Thr415Ter) - pathogenic g.10388294_10388297dup g.10407646_10407649dup MKKS(NM_018848.3):c.1242_1243insTGAA (p.(Thr415*)) - MKKS_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. - c.1239_1242dup r.(?) p.(Thr415*) ACMG likely pathogenic g.10388294_10388297dup g.10407646_10407649dup MKKS c.1239_1242dup, p.(Thr415*) - MKKS_000071 single heterozygous variant (recessive) PubMed: Jespersgaar 2019 - - Germline ? - - 0 - LOVD
+/. 5 c.1239_1242dup r.(?) p.(Thr415*) - pathogenic (recessive) g.10388294_10388297dup - BBS6:c.[1239_1242dup];[1478del] - MKKS_000071 - PubMed: Mary-2019 - - Germline - - - 0 - LOVD
+/. 5 c.1239_1242dup r.(?) p.(Thr415*) - pathogenic (recessive) g.10388294_10388297dup - BBS6:c.[1239_1242dup];[1478del] - MKKS_000071 - PubMed: Mary-2019 - - Germline - - - 0 - LOVD
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