Variant #0000358048 (NC_000017.10:g.37840962G>A, PGAP3(NM_033419.3):c.320C>T)

Individual ID 00155283
Chromosome 17
Allele Maternal (confirmed)
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.37840962G>A
DNA change (hg38) g.39684709G>A
Published as -
ISCN -
DB-ID PGAP3_000011 See all 6 reported entries
Variant remarks -
Reference PubMed: Pagnamenta et al. 2017
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00013 View details
Owner Philippe Campeau
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Philippe Campeau
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PGAP3 NM_033419.3 +?/. - c.320C>T r.(?) p.(Ser107Leu)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000156147 DNA SEQ-NG Blood WES - 2 Philippe Campeau