Variant #0000179050 (NC_000002.11:g.(47612350_47613710)_(47613753_47630323)del, NM_000251.2:c.? (MSH2))

Individual ID 00111430
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.(47612350_47613710)_(47613753_47630323)del
DNA change (hg38) -
Published as -
ISCN -
DB-ID EPCAM_000087
Variant remarks Suppresses expression of MSH2
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Nancy Uhrhammer
Database submission license No license selected
Created by Nancy Uhrhammer
Date created 2017-08-03 14:41:07 +02:00 (CEST)
Date last edited 2019-02-22 12:26:59 +01:00 (CET)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MSH2 NM_000251.2 +/. _1 c.? r.? p.?
EPCAM NM_002354.2 +/. 8i_9_ c.(903+1_904-1)_(*1_?)del r.? p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000111894 DNA MLPA - - EPCAM, MLH1, MSH2, MSH6 1 Nancy Uhrhammer


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