Variant #0000076944 (NC_000009.11:g.2081911A>G, SMARCA2(NM_003070.3):c.2264A>G)
Individual ID |
00047999 |
Chromosome |
9 |
Allele |
Unknown |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Effect unknown |
Classification method |
- |
Clinical classification |
pathogenic |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.2081911A>G |
DNA change (hg38) |
g.2081911A>G |
Published as |
- |
ISCN |
- |
DB-ID |
SMARCA2_000024 See all 2 reported entries |
Variant remarks |
- |
Reference |
PubMed: Van Houdt et al 2012 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Unknown |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
0 |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Variant not found in online data sets |
Owner |
SIB - Livia Famiglietti |

Variant on transcripts
Screenings
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