Full data view for gene MAF

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the 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.809C>A r.(?) p.(Ser270Tyr) Paternal (inferred) - pathogenic g.79632991G>T g.79599094G>T - - MAF_000025 - PubMed: Dudakova 2017 - - Germline - - - 0 - DNA SEQ - WES CTRCT 28849415-FamPatI1/III3 PubMed: Dudakova 2017 3-generation family, 4 affected (2F, 2M), paternal grandmother and son III3, father (II4) not available F;M no Czech Republic - - 0 - - 4 Johan den Dunnen
+/. - c.809C>A r.(?) p.(Ser270Tyr) Paternal (inferred) - pathogenic g.79632991G>T g.79599094G>T - - MAF_000025 - PubMed: Dudakova 2017 - - Germline yes - - 0 - DNA SEQ - - CTRCT 28849415-FamPatIII1 PubMed: Dudakova 2017 - F - Czech Republic - - 0 - - 1 Johan den Dunnen
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