Genomic variant #0000357912

Individual ID 00155200
Chromosome 2
Allele Maternal (confirmed)
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.197740500G>A
DNA change (hg38) -
Published as -
ISCN -
DB-ID PGAP1_000014
Variant remarks -
Reference PubMed: Williams et al. 2015
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.00015 View details
Owner Philippe Campeau




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
PGAP1 NM_024989.3 +?/. - c.1396C>T - r.(?) p.(Gln466*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000156064 DNA SEQ-NG - WES - 2 Philippe Campeau