Variant #0000415562 (NC_000002.11:g.?, NC_000002.11(NM_000179.2):c.(?_-1)_(645+1_646-1)del (MSH6))
Individual ID |
00187065 |
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.? |
DNA change (hg38) |
- |
Published as |
1?_645+?del |
ISCN |
- |
DB-ID |
MSH6_000893 |
Variant remarks |
Submitter has reported the nomenclature for deletion of MSH2 exon 1 to 3 not MSH6 |
Reference |
- |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Genomic location of variant could not be determined |
Owner |
José Luis Soto |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
InSiGHT - John-Paul Plazzer |
Date created |
2014-07-14 14:09:52 +02:00 (CEST) |
Date last edited |
2018-11-09 16:06:39 +01:00 (CET) |
Variant on transcripts
Screenings
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