Variant #0000009517 (NC_000002.12:g.45004_46866del, EPCAM(NM_002354.2):c.859_*415del)

Individual ID 00001955
Chromosome 2
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg38 / GRCh38) g.45004_46866del
Reference -
DB-ID EPCAM_000015
dbSNP ID -
Variant remarks Deletion (Exons 8-9)
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Pablo Kalfayan-Hospital Italiano
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Instituto Nacional del Cancer
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Variant on transcripts


Gene     

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Review status     
EPCAM NM_002354.2 +/+ 8-9 c.859_*415del p.? Hetero N/A r.? -



Screenings


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Owner     
0000002242 DNA SEQ-NG Invitae Panel (26 genes) APC*, ATM*, AXIN2, BARD1, BMPR1A, BRCA1, BRCA2, CDH1, CDKN2A (p.14ARF), CDKN2A (p.16NK4a), CHEK2, EPCAM*, GREM1*, MLH1*, MSH2*, MSH6*, MUTYH, NBN, NTHL1, PALB2, PMS2*, POLD1*, POLE, PTEN*, SMAD4, STK11, TP53 31-mar-2022 Multigenetic panel - 1 Pablo Kalfayan-Hospital Italiano