Variant #0000018959 (NC_000009.11:g.2039793A>C, SMARCA2(NM_003070.3):c.683A>C)
Individual ID |
00001516 |
Chromosome |
9 |
Allele |
Unknown |
Affects function (as reported) |
Effect unknown |
Affects function (by curator) |
Effect unknown |
Classification method |
- |
Clinical classification |
VUS |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.2039793A>C |
DNA change (hg38) |
g.2039793A>C |
Published as |
- |
ISCN |
- |
DB-ID |
SMARCA2_000040 See all 2 reported entries |
Variant remarks |
- |
Reference |
- |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Unknown |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Variant not found in online data sets |
Owner |
Gijs Santen |

Variant on transcripts
Screenings
|
|