Variant #0000415553 (NC_000002.11:g.47998510_48020183del, MSH6(NM_000179.2):c.-11863_457+1921del)
Individual ID |
00187056 |
Chromosome |
2 |
Allele |
Parent #1 |
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.47998510_48020183del |
DNA change (hg38) |
g.47771371_47793044del |
Published as |
- |
ISCN |
- |
DB-ID |
MSH6_000002 See all 2 reported entries |
Variant remarks |
21.6 Kb deletion exon 1-2 |
Reference |
PubMed: van der Klift 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 |
Carli Tops |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
InSiGHT - John-Paul Plazzer |

Variant on transcripts
Screenings
|
|