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.

2 entries on 1 page. Showing entries 1 - 2.
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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.837del r.(?) p.(Gly280Glufs*4) Unknown ACMG likely pathogenic g.10393326del g.10412678del MKKS c.890T>C, p.(Ile297Thr), c.837del, p.(Gly280Glufs*4) - MKKS_000101 - PubMed: Jespersgaar 2019 - - Germline ? - - 0 - DNA SEQ-NG-I blood 125 genes associated with inherited retinal disorders, see paper supplemental data retinal disease 154 PubMed: Jespersgaar 2019 - ? - Denmark - - 0 - - 1 LOVD
+/. 3 c.837del r.(?) p.(Gly280Glufs*4) Unknown - pathogenic g.10393326del - c.837delA (p.Gly280GlufsX4) - MKKS_000101 - PubMed: Duelund Hjortshoj-2010 - - Germline - - - 0 - DNA, RNA DHPLC, arraySNP, RT-PCR blood - retinal disease - PubMed: Duelund Hjortshoj-2010 - - - - - - 0 - - 1 LOVD
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