Genomic variant #0000047866

Individual ID 00025011
Chromosome 2
Allele Paternal (confirmed)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.197784746_197784748del
DNA change (hg38) g.196920022_196920024del
Published as -
ISCN -
DB-ID PGAP1_000001
Variant remarks variant heterozygous in sister
Reference PubMed: Bosch 2015, Journal: Bosch 2015, dear8LOV
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 +/. 2 c.274_276del - r.(?) p.(Pro92del)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

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