Variant #0000503950 (NC_000001.10:g.160252904G>A, COPA(NM_004371.3):c.*7043C>T)

Chromosome 1
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.160252904G>A
DNA change (hg38) g.160283114G>A
Published as PEX19(NM_002857.3):c.181-5C>T
ISCN -
DB-ID PEX19_000004 See all 2 reported entries
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) 0.00102 View details
Owner VKGL-NL_AMC
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PEX19 NM_002857.3 -?/. - c.181-5C>T r.spl? p.?
COPA NM_004371.3 -?/. - c.*7043C>T r.(=) p.(=)