Variant #0000274326 (NC_000001.10:g.160261984C>T, COPA(NM_004371.3):c.2965G>A)

Chromosome 1
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.160261984C>T
DNA change (hg38) g.160292194C>T
Published as COPA(NM_001098398.2):c.2992G>A (p.D998N)
ISCN -
DB-ID COPA_000001
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0 View details
Owner VKGL-NL_Rotterdam
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PEX19 NM_002857.3 ?/. - c.-7070G>A r.(?) p.(=)
COPA NM_004371.3 ?/. - c.2965G>A r.(?) p.(Asp989Asn)
NCSTN NM_015331.2 ?/. - c.-51203C>T r.(?) p.(=)