Variant #0000394485 (NC_000002.11:g.47611609_47617666del, EPCAM(NM_002354.2):c.859-696_*3914del)

Individual ID 00173766
Chromosome 2
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic (dominant)
DNA change (genomic) (Relative to hg19 / GRCh37) g.47611609_47617666del
DNA change (hg38) g.47384470_47390528del
Published as AC079775.6:g.79459_85516del6058
ISCN -
DB-ID EPCAM_000081
Variant remarks 6058 bp deletion C_AluSx1 to C_AluSz6
Variant Error [EBUILDMISMATCH]: This variant seems to mismatch; the genomic variants on hg19 and hg38 seem to not belong together. Please fix this entry and then remove this message.
Reference PubMed: Kovacs 2009
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Mamata Sivagnanam
Database submission license No license selected
Created by Mamata Sivagnanam
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
EPCAM NM_002354.2 +/. 7i_9_ c.859-696_*3914del r.? p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000174657 DNA SEQ - - EPCAM 1 Mamata Sivagnanam