Genomic variant #0000513835

Chromosome 2
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.197781192G>A
DNA change (hg38) -
Published as PGAP1(NM_024989.3):c.427C>T (p.(Gln143*))
ISCN -
DB-ID PGAP1_000024
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner VKGL-NL




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
PGAP1 NM_024989.3 +/. - c.427C>T pathogenic r.(?) p.(Gln143*)