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.

4 entries on 1 page. Showing entries 1 - 4.
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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     
-/. 3 c.117C>T r.(?) p.(Pro39=) Unknown - benign g.10394046G>A g.10413398G>A MKKS(NM_018848.3):c.117C>T (p.P39=) - MKKS_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. 3 c.117C>T r.(?) p.(Pro39=) Unknown - benign g.10394046G>A g.10413398G>A MKKS(NM_018848.3):c.117C>T (p.P39=) - MKKS_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 3 c.117C>T r.(=) p.(=) Unknown - pathogenic g.10394046G>A - BBS6:c.117C>T - MKKS_000067 - PubMed: Hoskins-2003 - - Germline - - - 0 - DNA PCR, SEQ, HD blood - retinal disease - PubMed: Hoskins-2003 - - - - - - 0 - - 1 LOVD
-/. - c.117C>T r.(?) p.(=) Unknown - benign g.10394046G>A g.10413398G>A - - MKKS_000067 - PubMed: Smaoui 2006 - rs17852626 Germline - 4/19 families BBS - 0 - DNA SEQ - - BBS - PubMed: Smaoui 2006 - - yes Tunisia - - 0 - - 1 Johan den Dunnen
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