Variant #0000817916 (NC_000017.10:g.37840849C>T, PGAP3(NM_033419.3):c.432+1G>A)

Individual ID 00387892
Chromosome 17
Allele Both (homozygous)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method ACMG
Clinical classification pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.37840849C>T
DNA change (hg38) g.39684596C>T
Published as -
ISCN -
DB-ID PGAP3_000030
Variant remarks -
Reference PubMed: Hu 2019
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 Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PGAP3 NM_033419.3 +/. - c.432+1G>A r.spl p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000389123 DNA SEQ;SEQ-NG - - PGAP3 1 Johan den Dunnen