Variant #0000006194 (NC_000002.12:g.47386560T>C, EPCAM(NM_002354.2):c.904-12T>C)

Individual ID 00000924
Chromosome 2
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Does not affect function
DNA change (genomic) (Relative to hg38 / GRCh38) g.47386560T>C
Reference -
DB-ID EPCAM_000004 See all 4 reported entries
dbSNP ID -
Variant remarks -
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     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

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Co_ocurrence     

RNA change     

Review status     
EPCAM NM_002354.2 -/- 8i c.904-12T>C p.(=) Hetero no r.(=) -



Screenings


AscendingScreening ID     

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Technique     

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Date of test     

Type of test     

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Variants found     

Owner     
0000001113 DNA SEQ-NG Dasa Genómica - Genia;Hospital Italiano de Buenos Aires - 28-feb-2019 Specific pathology EPCAM, MLH1, MSH2, MSH6, MUTYH, PMS2 5 Pablo Kalfayan-Hospital Italiano