Full data view for gene PGAP1

Information The variants shown are described using the NM_024989.3 transcript reference sequence.

2 entries on 1 page. Showing entries 1 - 2.
Legend  

Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Allele     

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/Death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+?/. - c.1090-2A>G - r.spl? p.? Both (homozygous) g.197755637T>C - - - PGAP1_000012 - PubMed: Granzow et al. 2015 - - Germline - - - 0 - DNA SEQ-NG peripheral blood WES - Patient_1 PubMed: Granzow 2015 - F yes Turkey - - 0 - - 2 Philippe Campeau
+?/. - c.1090-2A>G - r.spl? p.? Both (homozygous) g.197755637T>C - - - PGAP1_000012 - PubMed: Granzow et al. 2015 - - Germline - - - 0 - DNA SEQ-NG peripheral blood WES - Patient_2 PubMed: Granzow 2015 - M yes Turkey - - 0 - - 1 Philippe Campeau
Legend