Variant #0000503955 (NC_000001.10:g.160264593C>T, COPA(NM_004371.3):c.2531G>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.160264593C>T
DNA change (hg38) g.160294803C>T
Published as COPA(NM_001098398.2):c.2558G>A (p.G853D)
ISCN -
DB-ID COPA_000015
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) 0.00063 View details
Owner VKGL-NL_Rotterdam
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PEX19 NM_002857.3 ?/. - c.-9679G>A r.(?) p.(=)
COPA NM_004371.3 ?/. - c.2531G>A r.(?) p.(Gly844Asp)
NCSTN NM_015331.2 ?/. - c.-48594C>T r.(?) p.(=)