Variant #0000503949 (NC_000001.10:g.160252205A>G, COPA(NM_004371.3):c.*7742T>C)

Chromosome 1
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.160252205A>G
DNA change (hg38) g.160282415A>G
Published as PEX19(NM_002857.3):c.432+2T>C
ISCN -
DB-ID COPA_000010
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) 2.0E-5 View details
Owner VKGL-NL_AMC
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PEX19 NM_002857.3 +/. - c.432+2T>C r.spl? p.?
COPA NM_004371.3 +/. - c.*7742T>C r.(=) p.(=)