Variant #0000420917 (NC_000002.11:g.47583175_47667707del, MSH2(NM_000251.2):c.-47156_1277-4980del)
Individual ID |
00195651 |
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.47583175_47667707del |
DNA change (hg38) |
g.47356036_47440568del |
Published as |
Deletion of Exon 1-7, g.26399108_26483640del84533 (NT_022184) |
ISCN |
- |
DB-ID |
MSH2_000856 See all 3 reported entries |
Variant remarks |
- |
Reference |
PubMed: Hampel 2005 |
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 |
Michael Woods |

Variant on transcripts
Screenings
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