Variant #0000332536 (NC_000009.11:g.2039809_2039817dup, SMARCA2(NM_003070.3):c.699_707dup)
Chromosome |
9 |
Allele |
Unknown |
Affects function (as reported) |
Probably does not affect function |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
likely benign |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.2039809_2039817dup |
DNA change (hg38) |
g.2039809_2039817dup |
Published as |
SMARCA2(NM_003070.3):c.669_670insCAGCAGCAG (p.(Gln221_Gln223dup)), SMARCA2(NM_003070.4):c.699_707dupGCAGCAGCA (p.Q236_Q238dup) |
ISCN |
- |
DB-ID |
SMARCA2_000064 See all 3 reported entries |
Variant remarks |
VKGL data sharing initiative Nederland |
Reference |
- |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
CLASSIFICATION record |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
0 |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Variant not found in online data sets |
Owner |
VKGL-NL_Leiden |

Variant on transcripts
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