Variant #0000415854 (NC_000002.11:g.48026216ˆ48026217G>A, MSH6(NM_000179.2):c.1094ˆ1095G>A)
Individual ID |
00187328 |
Chromosome |
2 |
Allele |
Unknown |
Affects function (as reported) |
Effect unknown |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
VUS |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.48026216ˆ48026217G>A |
DNA change (hg38) |
- |
Published as |
p.Trp365X |
ISCN |
- |
DB-ID |
MSH6_000934 |
Variant remarks |
identified in a glioblastoma multiforme tumour sample |
Reference |
PubMed: Maxwell 2008 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Somatic |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
0 |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Genomic location of variant could not be determined |
Owner |
Michael Woods |
Variant on transcripts
Screenings
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