Genomic variant #0000420759

Individual ID 00195488
Chromosome 2
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.(?_47630206)_(47630542_47635539)del
DNA change (hg38) -
Published as (?_-68)_211+?del
ISCN -
DB-ID MSH2_000040 See all 42 reported entries
Variant remarks 1x male 41 y synchr. CC Coecum+C.ascendens, MSI-H, IHC loss of MSH2 + MSH6, MLH1 positive, Bethesda-pos.
Reference Elke Holinski-Feder and Monika Morak
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner INSiGHT group




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
MSH2 NM_000251.2 +/. _1_1i c.(?_-125)_(211+1_211-1)del pathogenic r.0? p.0?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000196458 DNA SEQ - - MSH2 1 INSiGHT group