Genomic variant #0000047867

Individual ID 00025011
Chromosome 2
Allele Maternal (confirmed)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.197761857_197761861del
DNA change (hg38) g.196897133_196897137del
Published as -
ISCN -
DB-ID PGAP1_000003
Variant remarks variant not present in sister
Reference PubMed: Bosch 2015, Journal: Bosch 2015, PubMed: Bosch 2016, Journal: Bosch 2016
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Danielle Bosch




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
PGAP1 NM_024989.3 +/. 7 c.921_925del - r.(?) p.(Lys308Asnfs*25)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000025012 DNA PCR;SEQ;SEQ-NG - - - 4 Danielle Bosch