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.

5 entries on 1 page. Showing entries 1 - 5.
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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.1436C>G r.(?) p.(Ser479Ter) - pathogenic g.10386172G>C g.10405524G>C MKKS(NM_018848.3):c.1436C>G (p.S479*) - MKKS_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+?/. - c.1436C>G r.(?) p.(Ser479Ter) - likely pathogenic g.10386172G>C g.10405524G>C MKKS(NM_018848.3):c.1436C>G (p.S479*) - MKKS_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 6 c.1436C>G r.(?) p.(Ser479*) - unclassified g.10386172G>C - c.1436C>G - MKKS_000029 - PubMed: Hichri-2005 - - Unknown - - - 0 - LOVD
+/. 6 c.1436C>G r.(?) p.(Ser479*) - pathogenic g.10386172G>C - BBS6:c.1436C>G - MKKS_000029 - PubMed: Jeziorny-2020 - - Germline - - - 0 - LOVD
+/. 6 c.1436C>G r.(?) p.(Ser479*) - pathogenic g.10386172G>C - BBS6:c.1436C>G - MKKS_000029 - PubMed: Jeziorny-2020 - - Germline - - - 0 - LOVD
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