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     
+/. - c.? r.(?) p.? Unknown - pathogenic (recessive) g.10393205T>A - g.10393205T>A* - MKKS_000099 - PubMed: Anasagasti-2013 - - Germline yes - - 0 - DNA SEQ blood - retinal disease - PubMed: Anasagasti-2013 - - - Spain - - 0 - - 1 LOVD
+/. - c.? r.(?) p.? Unknown - pathogenic (recessive) g.10393205T>A - g.10393205T>A* - MKKS_000099 - PubMed: Anasagasti-2013 - - Germline yes - - 0 - DNA SEQ blood - retinal disease - PubMed: Anasagasti-2013 - - - Spain - - 0 - - 1 LOVD
?/. 1 c.-3436C>T r.(?) p.? Unknown - VUS g.10417543G>A - BBS6: c.-3436C>T - MKKS_000099 - PubMed: M'hamdi-2014 - - Germline - - - 0 - DNA SEQ - targeted exon capture strategy retinal disease - PubMed: M'hamdi-2014 - F yes Tunisia Tunisian - 0 - - 1 LOVD
+/. 1 c.? r.(?) p.? Unknown - pathogenic g.10417543G>A - c.-3436C >T - MKKS_000099 - PubMed: M'hamdi 2014 - - Unknown - - - 0 - DNA SEQ blood - retinal disease - PubMed: M'hamdi_2014 - F yes Tunisia Tunisian - 0 - - 1 LOVD
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