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.

5 entries on 1 page. Showing entries 1 - 5.
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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     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+?/. - c.295T>C r.(?) p.(Cys99Arg) Unknown - likely pathogenic g.10393868A>G g.10413220A>G - - MKKS_000097 - PubMed: Patel 2016 - - Germline - - - 0 - DNA SEQ-NG - gene panel retinal disease 11DG1165 PubMed: Patel 2016 - - - Saudi Arabia - - 0 - - 1 LOVD
+/. 3 c.295T>C r.(?) p.(Cys99Arg) Both (homozygous) - pathogenic g.10393868A>G - [C99R]+[C99R] - MKKS_000097 - PubMed: Billingsley-2010 - - Germline - - - 0 - DNA SEQ blood - retinal disease - PubMed: Billingsley-2010 - M - - Portuguese - 0 - - 1 LOVD
+?/. 3 c.295T>C r.(?) p.(Cys99Arg) Parent #2 - likely pathogenic g.10393868A>G - [c.197+1G>T];[p.L600S] - MKKS_000097 - PubMed: Deveault-2011 - - Unknown - - - 0 - DNA PCR - - retinal disease - PubMed: Deveault-2011 novel M - - Mexican/Norwegian/Danish - 0 - - 1 LOVD
+?/. - c.295T>C r.(?) p.(Cys99Arg) Both (homozygous) - likely pathogenic g.10393868A>G g.10413220A>G MKKS c.29ST >C p.(Cys99Arg) - MKKS_000097 homozygous PubMed: Méjécase 2020 - - Unknown ? - - 0 - DNA SEQ-NG - retrospective case note review, targeted gene panel testing retinal disease 44 {PMID:Méjécase 2020:3278337 - ? - United Arab Emirates - - 0 - - 1 LOVD
+/. 3 c.295T>C r.(?) p.(Cys99Arg) Parent #1 - pathogenic (recessive) g.10393868A>G - BBS6:c.[295T>C];[492T>A] - MKKS_000097 - PubMed: Mary-2019 - - Germline - - - 0 - DNA SEQ - - retinal disease - PubMed: Mary 2019 Fetus: term at 24 gestation weeks F - France - - 0 - - 1 LOVD
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