Genomic variant #0000357758

Individual ID 00155049
Chromosome 2
Allele Both (homozygous)
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.197755637T>C
DNA change (hg38) -
Published as -
ISCN -
DB-ID PGAP1_000012 See all 2 reported entries
Variant remarks -
Reference PubMed: Granzow et al. 2015
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 Philippe Campeau




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
PGAP1 NM_024989.3 +?/. - c.1090-2A>G - r.spl? p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000155913 DNA SEQ-NG peripheral blood WES - 1 Philippe Campeau