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.

22 entries on 1 page. Showing entries 1 - 22.
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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.724G>T r.(?) p.(Ala242Ser) - likely pathogenic g.10393439C>A g.10412791C>A c.724C>A - MKKS_000016 g.10393439G>T Journal: Lim 2014 - - Germline yes - - 0 - Marianne Vos (LOVD-team)
-/. 3 c.724G>T r.(?) p.(Ala242Ser) - benign g.10393439C>A g.10412791C>A MKKS(NM_018848.3):c.724G>T (p.A242S, p.(Ala242Ser)) - MKKS_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-?/. 3 c.724G>T r.(?) p.(Ala242Ser) - likely benign g.10393439C>A g.10412791C>A MKKS(NM_018848.3):c.724G>T (p.A242S, p.(Ala242Ser)) - MKKS_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-?/. 3 c.724G>T r.(?) p.(Ala242Ser) - likely benign g.10393439C>A g.10412791C>A MKKS(NM_018848.3):c.724G>T (p.A242S, p.(Ala242Ser)) - MKKS_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. 3 c.724G>T r.(?) p.(Ala242Ser) - likely benign g.10393439C>A g.10412791C>A MKKS(NM_018848.3):c.724G>T (p.A242S, p.(Ala242Ser)) - MKKS_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.724G>T r.(?) p.(Ala242Ser) - likely benign g.10393439C>A g.10412791C>A MKKS(NM_018848.3):c.724G>T (p.A242S, p.(Ala242Ser)) - MKKS_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.724G>T r.(?) p.(Ala242Ser) - likely benign g.10393439C>A g.10412791C>A - - MKKS_000016 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs74315394 Germline - 1/2795 individuals - 0 - Mohammed Faruq
+/. - c.724G>T r.(?) p.(Ala242Ser) - pathogenic g.10393439C>A g.10412791C>A - - MKKS_000016 dominant-negative PubMed: Lindstrand 2016 - - Germline - - - 0 - LOVD
?/. - c.724G>T r.(?) p.(Ala242Ser) - VUS g.10393439C>A g.10412791C>A NM_018848.3:c.724G>T - MKKS_000016 - PubMed: Tiwari 2016 - - Germline - - - 0 - LOVD
+?/. 3 c.724G>T r.(?) p.(Ala242Ser) - likely pathogenic (recessive) g.10393439C>A - BBS6:A242S - MKKS_000016 - PubMed: Katsanis-2001 - - Germline - - - 0 - LOVD
-?/. 3 c.724G>T r.(?) p.(Ala242Ser) - likely benign g.10393439C>A - BBS6: c.72>G>T - MKKS_000016 - PubMed: Duelund Hjortshoj-2010 - - Germline - - - 0 - LOVD
-?/. 3 c.724G>T r.(?) p.(Ala242Ser) - likely benign g.10393439C>A - BBS6: c.72>G>T - MKKS_000016 - PubMed: Duelund Hjortshoj-2010 - - Germline - - - 0 - LOVD
-?/. 3 c.724G>T r.(?) p.(Ala242Ser) - likely benign g.10393439C>A - BBS6: c.72>G>T - MKKS_000016 - PubMed: Duelund Hjortshoj-2010 - - Germline - - - 0 - LOVD
+?/. 3 c.724G>T r.(?) p.(Ala242Ser) - likely pathogenic g.10393439C>A - BBS6:A242S - MKKS_000016 - PubMed: Eichers-2009, Katsanis 2001 - - Germline - - - 0 - LOVD
?/. 3 c.724G>T r.(?) p.(Ala242Ser) - VUS g.10393439C>A - [A242S]+[=] - MKKS_000016 normal 2nd chromosome PubMed: Billingsley-2010 - - Germline - - - 0 - LOVD
?/. 3 c.724G>T r.(?) p.(Ala242Ser) - VUS g.10393439C>A - [A242S]+[=] - MKKS_000016 normal 2nd chromosome PubMed: Billingsley-2010 - - Germline - - - 0 - LOVD
?/. 3 c.724G>T r.(?) p.(Ala242Ser) - VUS g.10393439C>A - c.[724G>T];[=] - MKKS_000016 - PubMed: Redin-2012 - - Germline - - - 0 - LOVD
+?/. 3 c.724G>T r.(?) p.(Ala242Ser) - likely pathogenic g.10393439C>A - [p.M1V];[p.M1V] - MKKS_000016 - PubMed: Deveault-2011 - - Unknown - - - 0 - LOVD
+?/. 3 c.724G>T r.(?) p.(Ala242Ser) - likely pathogenic g.10393439C>A - [p.G41R];[p.G41R] - MKKS_000016 - PubMed: Deveault-2011 - - Unknown - - - 0 - LOVD
+?/. 3 c.724G>T r.(?) p.(Ala242Ser) - likely pathogenic g.10393439C>A - c.724G>T(h) - MKKS_000016 unknown variant 2nd chromosome PubMed: Janssen-2011 - - Germline - 1.7% ; absent in 96 controls - 0 - LOVD
+?/. 3 c.724G>T r.(?) p.(Ala242Ser) - likely pathogenic g.10393439C>A - c.724G>T(h) - MKKS_000016 unknown variant 2nd chromosome PubMed: Janssen-2011 - - Germline - 3.4% ; absent in 96 controls - 0 - LOVD
+?/. 3 c.724G>T r.(?) p.(Ala242Ser) - likely pathogenic g.10393439C>A - p.(Ala242Ser) - MKKS_000016 - PubMed: Castro Sanchez 2015 - - Germline - - - 0 - LOVD
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