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.

3 entries on 1 page. Showing entries 1 - 3.
Legend   How to query  

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.895C>A r.(?) p.(Arg299Ser) Unknown - likely pathogenic g.79632905G>T g.79599008G>T - - MAF_000008 - PubMed: Hansen 2007 - - Germline - - - 0 - DNA, protein arraySNP - - CTRCT - PubMed: Hansen 2007 4 affected individuals from a family - - - - - - - - 4 Deepti Anand
+?/. 1 c.895C>A r.(?) p.(Arg299Ser) Unknown - likely pathogenic g.79632905G>T g.79599008G>T - - MAF_000008 - PubMed: Hansen 2007 - - Germline - - - 0 - DNA, protein arraySNP - - CTRCT - PubMed: Hansen 2007 4 affected individuals from a family - - - - - - - - 4 Deepti Anand
+?/. 1 c.895C>A r.(?) p.(Arg299Ser) Unknown - likely pathogenic g.79632905G>T g.79599008G>T - - MAF_000008 - PubMed: Hansen 2007 - - Germline - - - 0 - DNA, protein arraySNP - - CTRCT - PubMed: Hansen 2007 4 affected individuals from a family - - - - - - - - 4 Deepti Anand
Legend   How to query