Variant #0000503956 (NC_000001.10:g.160264615T>A, COPA(NM_004371.3):c.2509A>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.160264615T>A
DNA change (hg38) g.160294825T>A
Published as COPA(NM_001098398.2):c.2536A>T (p.I846F)
ISCN -
DB-ID COPA_000016
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_Rotterdam
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PEX19 NM_002857.3 -?/. - c.-9701A>T r.(?) p.(=)
COPA NM_004371.3 -?/. - c.2509A>T r.(?) p.(Ile837Phe)
NCSTN NM_015331.2 -?/. - c.-48572T>A r.(?) p.(=)