Variant #0000276183 (NC_000002.11:g.47596657C>T, EPCAM(NM_002354.2):c.13C>T)

Chromosome 2
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.47596657C>T
DNA change (hg38) g.47369518C>T
Published as EPCAM(NM_002354.2):c.13C>T (p.Q5*)
ISCN -
DB-ID EPCAM_000008
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner VKGL-NL_Rotterdam
Database submission license No license selected
Created by VKGL-NL_Rotterdam
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
EPCAM NM_002354.2 +/. - c.13C>T r.(?) p.(Gln5Ter)