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.269A>G r.(?) p.(Asp90Gly) Maternal (confirmed) - likely pathogenic g.10393894T>C g.10413246T>C - - MKKS_000046 - PubMed: González-del Pozo 2014 - - Germline yes - - 0 - DNA SEQ-NG-S - - BBS - - 1 familie, 3 patients M yes Spain Hispanic - 0 - - 1 María González-del Pozo
+/. 3 c.269A>G r.(?) p.(Asp90Gly) Maternal (inferred) - pathogenic g.10393894T>C - c.269A>G; p.D90G - MKKS_000046 - PubMed: Gonzalez del Pozo 2013 - - Germline yes - - 0 - DNA SEQ blood - retinal disease - PubMed: Gonzalez-del Pozo-2013 - F - Spain spanish - 0 - - 1 LOVD
+/. 3 c.269A>G r.(?) p.(Asp90Gly) Maternal (inferred) - pathogenic g.10393894T>C - c.269A>G; p.D90G - MKKS_000046 - PubMed: Gonzalez del Pozo 2013 - - Germline yes - - 0 - DNA SEQ blood - retinal disease - PubMed: Gonzalez-del Pozo-2013 - M - Spain spanish - 0 - - 1 LOVD
+/. 3 c.269A>G r.(?) p.(Asp90Gly) Maternal (inferred) - pathogenic g.10393894T>C - c.269A>G; p.D90G - MKKS_000046 - PubMed: Gonzalez del Pozo 2013 - - Germline yes - - 0 - DNA SEQ blood - retinal disease - PubMed: Gonzalez-del Pozo-2013 - M - Spain spanish - 0 - - 1 LOVD
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