Variant #0000417463 (NC_000002.11:g.48010395_48010398del, MSH6(NM_000179.2):c.23_26del)
Individual ID |
00201777 |
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.48010395_48010398del |
DNA change (hg38) |
g.47783256_47783259del |
Published as |
23_26delACAG |
ISCN |
- |
DB-ID |
MSH6_000913 |
Variant remarks |
WT MaxEntScan score: 7.38; Variant MaxEntScan score: 7.38; Difference in MaxEntScan score between variant and WT (%): 0 |
Reference |
PubMed: Rossi 2017 |
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 |
Mev Dominguez Valentin |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
InSiGHT - John-Paul Plazzer |

Variant on transcripts
Screenings
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