Variant #0000623659 (NC_000017.10:g.37829798A>C, PGAP3(NM_033419.3):c.663T>G)

Chromosome 17
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.37829798A>C
DNA change (hg38) g.39673545A>C
Published as PGAP3(NM_033419.5):c.663T>G (p.Y221*)
ISCN -
DB-ID PGAP3_000028
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner VKGL-NL_Groningen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Groningen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PGAP3 NM_033419.3 +/. - c.663T>G r.(?) p.(Tyr221Ter)