Genomic variant #0000268861

Chromosome 2
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.47604148T>C
DNA change (hg38) g.47377009T>C
Published as EPCAM(NM_002354.2):c.492-5T>C
ISCN -
DB-ID EPCAM_000015 See all 3 reported entries
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) 0.02414 View details
Owner VKGL-NL_VUmc
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
EPCAM NM_002354.2 -/. - c.492-5T>C r.spl? p.?