Variant #0000420759 (NC_000002.11:g.(?_47630206)_(47630542_47635539)del, MSH2(NM_000251.2):c.(?_-125)_(211+1_212-1)del)
Individual ID |
00195488 |
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.(?_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 |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
INSiGHT group |
Database submission license |
No license selected |
Created by |
INSiGHT group |

Variant on transcripts
Screenings
|
|