Full data view for gene MKKS

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.

28 entries on 1 page. Showing entries 1 - 28.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

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Population     

Age at death     

VIP     

Data_av     

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Owner     
+?/. 3 c.724G>T r.(?) p.(Ala242Ser) Both (homozygous) - likely pathogenic g.10393439C>A g.10412791C>A c.724C>A - MKKS_000016 g.10393439G>T Journal: Lim 2014 - - Germline yes - - 0 - - - - - - - - - - - - - - - - - - -
-/. 3 c.724G>T r.(?) p.(Ala242Ser) Unknown - 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 - - - - - - - - - - - - - - - - - - -
-?/. 3 c.724G>T r.(?) p.(Ala242Ser) Unknown - 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 - - - - - - - - - - - - - - - - - - -
-?/. 3 c.724G>T r.(?) p.(Ala242Ser) Unknown - 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 - - - - - - - - - - - - - - - - - - -
-?/. 3 c.724G>T r.(?) p.(Ala242Ser) Unknown - 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 - - - - - - - - - - - - - - - - - - -
-?/. - c.724G>T r.(?) p.(Ala242Ser) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.724G>T r.(?) p.(Ala242Ser) Parent #1 - 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 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 1 Mohammed Faruq
+/. - c.724G>T r.(?) p.(Ala242Ser) Unknown - pathogenic g.10393439C>A g.10412791C>A - - MKKS_000016 dominant-negative PubMed: Lindstrand 2016 - - Germline - - - 0 - DNA arrayCGH, PCRlr, SEQ-NG - - BBS AR800-03 PubMed: Lindstrand 2016 - M no United States - - 0 - - 1 LOVD
?/. - c.724G>T r.(?) p.(Ala242Ser) Unknown - VUS g.10393439C>A g.10412791C>A NM_018848.3:c.724G>T - MKKS_000016 - PubMed: Tiwari 2016 - - Germline - - - 0 - DNA SEQ-NG - WES retinal disease Case71094 PubMed: Tiwari 2016 see paper M - Switzerland - - 0 - - 1 LOVD
+?/. 3 c.724G>T r.(?) p.(Ala242Ser) Unknown - likely pathogenic (recessive) g.10393439C>A - BBS6:A242S - MKKS_000016 - PubMed: Katsanis-2001 - - Germline - - - 0 - DNA SEQ - - retinal disease - PubMed: Katsanis-2001 - - - - - - 0 - - 1 LOVD
-?/. 3 c.724G>T r.(?) p.(Ala242Ser) Unknown - likely benign g.10393439C>A - BBS6: c.72>G>T - MKKS_000016 - PubMed: Duelund Hjortshoj-2010 - - Germline - - - 0 - DNA, RNA DHPLC, arraySNP, RT-PCR blood - retinal disease - PubMed: Duelund Hjortshoj-2010 - M - - - - 0 - - 1 LOVD
-?/. 3 c.724G>T r.(?) p.(Ala242Ser) Both (homozygous) - likely benign g.10393439C>A - BBS6: c.72>G>T - MKKS_000016 - PubMed: Duelund Hjortshoj-2010 - - Germline - - - 0 - DNA, RNA DHPLC, arraySNP, RT-PCR blood - retinal disease - PubMed: Duelund Hjortshoj-2010 - M - - - - 0 - - 1 LOVD
-?/. 3 c.724G>T r.(?) p.(Ala242Ser) Unknown - likely benign g.10393439C>A - BBS6: c.72>G>T - MKKS_000016 - PubMed: Duelund Hjortshoj-2010 - - Germline - - - 0 - DNA, RNA DHPLC, arraySNP, RT-PCR blood - retinal disease - PubMed: Duelund Hjortshoj-2010 - M - - - - 0 - - 1 LOVD
+?/. 3 c.724G>T r.(?) p.(Ala242Ser) Unknown - likely pathogenic g.10393439C>A - BBS6:A242S - MKKS_000016 - PubMed: Eichers-2009, Katsanis 2001 - - Germline - - - 0 - DNA ? - - retinal disease - PubMed: Eichers-2009, Katsanis 2001 - - - - - - 0 - - 1 LOVD
?/. 3 c.724G>T r.(?) p.(Ala242Ser) Unknown - VUS g.10393439C>A - [A242S]+[=] - MKKS_000016 normal 2nd chromosome PubMed: Billingsley-2010 - - Germline - - - 0 - DNA SEQ blood - retinal disease - PubMed: Billingsley-2010 - F - - Irish - 0 - - 1 LOVD
?/. 3 c.724G>T r.(?) p.(Ala242Ser) Unknown - VUS g.10393439C>A - [A242S]+[=] - MKKS_000016 normal 2nd chromosome PubMed: Billingsley-2010 - - Germline - - - 0 - DNA SEQ blood - retinal disease - PubMed: Billingsley-2010 - F - - British - 0 - - 1 LOVD
?/. 3 c.724G>T r.(?) p.(Ala242Ser) Unknown - VUS g.10393439C>A - c.[724G>T];[=] - MKKS_000016 - PubMed: Redin-2012 - - Germline - - - 0 - DNA arrayCNV, SEQ blood - retinal disease - PubMed: Redin-2012 - - - France - - 0 - - 1 LOVD
+?/. 3 c.724G>T r.(?) p.(Ala242Ser) Both (homozygous) - likely pathogenic g.10393439C>A - [p.M1V];[p.M1V] - MKKS_000016 - PubMed: Deveault-2011 - - Unknown - - - 0 - DNA PCR - - retinal disease - PubMed: Deveault-2011 - F yes - Croatian - 0 - - 1 LOVD
+?/. 3 c.724G>T r.(?) p.(Ala242Ser) Both (homozygous) - likely pathogenic g.10393439C>A - [p.G41R];[p.G41R] - MKKS_000016 - PubMed: Deveault-2011 - - Unknown - - - 0 - DNA PCR - - retinal disease - PubMed: Deveault-2011 - F yes - Arabic - 0 - - 1 LOVD
+?/. 3 c.724G>T r.(?) p.(Ala242Ser) Unknown - 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 - DNA SEQ - - retinal disease A786-II1 PubMed: Janssen-2011 - - - Macedonia - - 0 - - 1 LOVD
+?/. 3 c.724G>T r.(?) p.(Ala242Ser) Unknown - 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 - DNA HD - - retinal disease AR800(A2870)-03 PubMed: Janssen-2011 - - - - Northern-Europe - 0 - - 1 LOVD
+?/. 3 c.724G>T r.(?) p.(Ala242Ser) Unknown - likely pathogenic g.10393439C>A - p.(Ala242Ser) - MKKS_000016 - PubMed: Castro Sanchez 2015 - - Germline - - - 0 - DNA SEQ blood - retinal disease - PubMed: Castro Sanchez 2015 - M - Spain Spanish - 0 - - 1 LOVD
+?/. - c.724G>T r.(?) p.(Ala242Ser) Both (homozygous) - likely pathogenic g.10393439C>A g.10412791C>A MKKS A242S - MKKS_000016 no nucleotide annotation, extrapolated from protein and databases; linked in this family to a likely pathogenic p.H84Y variant; homozygous PubMed: Stone 2000 - - Germline yes 0/200 chromosomes from the non-Amish control group - 0 - DNA SEQ - - MKKS ? PubMed: Stone 2000 whole family described elsewhere (Stone et al.. 1998) - likely United States Amish - 0 - - 1 LOVD
+?/. - c.724G>T r.(?) p.(Ala242Ser) Unknown - likely pathogenic g.10393439C>A g.10412791C>A MKKS Ala242Ser - MKKS_000016 no nucleotide annotation, extrapolated from protein and databases; single carrier, all siblings wild type, but some overweight, the patient morbidly obese; heterozygous PubMed: Stone 2000 - - Germline/De novo (untested) ? - - 0 - DNA RFLP blood - obesity F85-51 PubMed: Andersen 2005 Family F-85, individual 51 F - - - - 0 - - 1 LOVD
+?/. - c.724G>T r.(?) p.(Ala242Ser) Both (homozygous) - likely pathogenic g.10393439C>A g.10412791C>A MKKS Ala242Ser - MKKS_000016 no nucleotide annotation, extrapolated from protein and databases; linked in this family to obesity, both in heterozygous parents and homozygous patient PubMed: Stone 2000 - - Germline yes - - 0 - DNA RFLP blood - obesity F1159-5 PubMed: Andersen 2005 Family F1159, individual 5 (proband) M - - - - 0 - - 1 LOVD
+?/. - c.724G>T r.(?) p.(Ala242Ser) Both (homozygous) - likely pathogenic g.10393439C>A g.10412791C>A MKKS Ala242Ser - MKKS_000016 no nucleotide annotation, extrapolated from protein and databases; linked in this family to obesity, both in heterozygous parents and homozygous patient PubMed: Stone 2000 - - Germline yes - - 0 - DNA RFLP blood - obesity F1159-1 PubMed: Andersen 2005 Family F1159, individual 1 (proband's father) M - - - - 0 - - 1 LOVD
+?/. - c.724G>T r.(?) p.(Ala242Ser) Both (homozygous) - likely pathogenic g.10393439C>A g.10412791C>A MKKS Ala242Ser - MKKS_000016 no nucleotide annotation, extrapolated from protein and databases; linked in this family to obesity, both in heterozygous parents and homozygous patient PubMed: Stone 2000 - - Germline yes - - 0 - DNA RFLP blood - obesity F1159-2 PubMed: Andersen 2005 Family F1159, individual 2 (proband's mother) F - - - - 0 - - 1 LOVD
+?/. - c.724G>T r.(?) p.(Ala242Ser) Unknown - likely pathogenic g.10393439C>A g.10412791C>A MKKS c.724G>T, p.242Ala>Ser - MKKS_000016 heterozygous; also an unknown significance variant 5'UTR: -417A>C present, which cannot be pinpointed due to the lack of information PubMed: Chetta 2011 - - Germline/De novo (untested) ? - - 0 - DNA ? - - BBS ? PubMed: Chetta 2011 - F no - Italian - 0 - - 1 LOVD
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