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.

14 entries on 1 page. Showing entries 1 - 14.
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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     
-?/. 4 c.1015A>G r.(?) p.(Ile339Val) - likely benign g.10389422T>C g.10408774T>C MKKS(NM_018848.3):c.1015A>G (p.I339V) - MKKS_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. 4 c.1015A>G r.(?) p.(Ile339Val) - benign g.10389422T>C g.10408774T>C MKKS(NM_018848.3):c.1015A>G (p.I339V) - MKKS_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.1015A>G r.(?) p.(Ile339Val) - benign g.10389422T>C g.10408774T>C MKKS(NM_018848.3):c.1015A>G (p.I339V) - MKKS_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.1015A>G r.(?) p.(Ile339Val) - likely benign g.10389422T>C - MKKS(NM_018848.3):c.1015A>G (p.I339V) - MKKS_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1015A>G r.(?) p.(Ile339Val) - VUS g.10389422T>C g.10408774T>C - - MKKS_000015 - PubMed: Khan 2016 - rs137853909 Germline - - - 0 - Johan den Dunnen
?/. - c.1015A>G r.(?) p.(Ile339Val) - VUS g.10389422T>C g.10408774T>C - - MKKS_000015 - PubMed: Khan 2016 - rs137853909 Germline - - - 0 - Johan den Dunnen
?/. - c.1015A>G r.(?) p.(Ile339Val) - VUS g.10389422T>C g.10408774T>C - - MKKS_000015 - PubMed: Khan 2016 - rs137853909 Germline - - - 0 - Johan den Dunnen
?/. - c.1015A>G r.(?) p.(Ile339Val) - VUS g.10389422T>C g.10408774T>C - - MKKS_000015 - PubMed: Khan 2016 - rs137853909 Germline - - - 0 - Johan den Dunnen
?/. - c.1015A>G r.(?) p.(Ile339Val) - VUS g.10389422T>C g.10408774T>C - - MKKS_000015 - PubMed: Khan 2016 - rs137853909 Germline - - - 0 - Johan den Dunnen
?/. - c.1015A>G r.(?) p.(Ile339Val) - VUS g.10389422T>C g.10408774T>C - - MKKS_000015 - PubMed: Bryant 2018 - rs137853909 Germline - - - 0 - LOVD
?/. - c.1015A>G r.(?) p.(Ile339Val) - VUS g.10389422T>C g.10408774T>C - - MKKS_000015 - PubMed: Tiwari 2016 - - Germline - - - 0 - LOVD
?/. - c.1015A>G r.(?) p.(Ile339Val) - VUS g.10389422T>C g.10408774T>C NM_018848.3:c.1015A>G - MKKS_000015 - PubMed: Tiwari 2016 - - Germline - - - 0 - LOVD
?/. 4 c.1015A>G r.(?) p.(Ile339Val) - VUS g.10389422T>C - c.1015A>G - MKKS_000015 - PubMed: Hichri-2005 - - Unknown - - - 0 - LOVD
-?/. 4 c.1015A>G r.(?) p.(Ile339Val) - likely benign g.10389422T>C - BBS6: c.1015A>G - MKKS_000015 - PubMed: Duelund Hjortshoj-2010 - - Germline - - - 0 - LOVD
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