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     
-?/. 3 c.416G>A r.(?) p.(Arg139Gln) - likely benign g.10393747C>T g.10413099C>T MKKS(NM_018848.3):c.416G>A (p.R139Q) - MKKS_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.416G>A r.(?) p.(Arg139Gln) - benign g.10393747C>T g.10413099C>T - - MKKS_000064 2 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs145045986 Germline - 2/2795 individuals - 0 - Mohammed Faruq
+?/. - c.416G>A r.(?) p.(Arg139Gln) - likely pathogenic g.10393747C>T g.10413099C>T MKKS/BBS6 c.416G>A, p.Arg139Gln - MKKS_000064 single heterozygous variant in a recessive disease; no second causative allele found PubMed: Kang 2016 - - Unknown ? - - 0 - LOVD
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