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.

3 entries on 1 page. Showing entries 1 - 3.
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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.119C>G r.(?) p.(Ser40*) Both (homozygous) - pathogenic g.10394044G>C - c.119C>G - MKKS_000130 - PubMed: Ullah-2017 - - Germline yes - - 0 - DNA arraySNP, SEQ blood - retinal disease E:III-7 PubMed: Ullah-2017 - F yes Pakistan - - 0 - - 1 LOVD
+/. 3 c.119C>G r.(?) p.(Ser40*) Both (homozygous) - pathogenic g.10394044G>C - c.119C>G - MKKS_000130 - PubMed: Ullah-2017 - - Germline yes - - 0 - DNA arraySNP, SEQ blood - retinal disease E:IV-3 PubMed: Ullah-2017 - M yes Pakistan - - 0 - - 1 LOVD
+/. 3 c.119C>G r.(?) p.(Ser40*) Both (homozygous) - pathogenic g.10394044G>C - c.119C>G - MKKS_000130 - PubMed: Ullah-2017 - - Germline yes - - 0 - DNA arraySNP, SEQ blood - retinal disease E:IV-4 PubMed: Ullah-2017 - M yes Pakistan - - 0 - - 1 LOVD
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