Variant #0000358035 (NC_000017.10:g.37829361A>G, PGAP3(NM_033419.3):c.842T>C)

Individual ID 00155270
Chromosome 17
Allele Paternal (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.37829361A>G
DNA change (hg38) g.39673108A>G
Published as -
ISCN -
DB-ID PGAP3_000018
Variant remarks -
Reference PubMed: Knaus et al. 2016
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Philippe Campeau
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Philippe Campeau
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PGAP3 NM_033419.3 +?/. - c.842T>C r.(?) p.(Leu281Pro)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000156134 DNA;RNA SEQ-NG fibroblasts or blood exome sequencing - 2 Philippe Campeau