Variant #0000503953 (NC_000001.10:g.160262330T>G, COPA(NM_004371.3):c.2904A>C)

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.160262330T>G
DNA change (hg38) g.160292540T>G
Published as COPA(NM_001098398.2):c.2931A>C (p.T977=)
ISCN -
DB-ID COPA_000013
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) 0.00135 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.-7416A>C r.(?) p.(=)
COPA NM_004371.3 -?/. - c.2904A>C r.(?) p.(Thr968=)
NCSTN NM_015331.2 -?/. - c.-50857T>G r.(?) p.(=)