Variant #0000439020 (NC_000017.10:g.37829376G>A, PGAP3(NM_033419.3):c.827C>T)

Chromosome 17
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Probably affects function
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.37829376G>A
DNA change (hg38) g.39673123G>A
Published as -
ISCN -
DB-ID PGAP3_000006 See all 2 reported entries
Variant remarks -
Reference PubMed: Knaus et al. 2018
ClinVar ID -
dbSNP ID -
Origin Germline/De novo (untested)
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 6.0E-5 View details
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.827C>T r.(?) p.(Pro276Leu)