Variant #0000451299 (NC_000023.10:g.(153564000_153607597)_(153609883_153624000)inv, NM_001110556.1:c.(?_-249)_(*317_?)inv (FLNA))
| Individual ID |
00216005 |
| Chromosome |
X |
| Allele |
Maternal (confirmed) |
| Affects function (as reported) |
Does not affect function |
| Affects function (by curator) |
Not classified |
| Classification method |
- |
| Clinical classification |
benign |
| DNA change (genomic) (Relative to hg19 / GRCh37) |
g.(153564000_153607597)_(153609883_153624000)inv |
| DNA change (hg38) |
- |
| Published as |
- |
| ISCN |
- |
| DB-ID |
EMD_000089 |
| Variant remarks |
48kb inversion FLNA/EMD |
| Reference |
PubMed: Small 1997 |
| ClinVar ID |
- |
| dbSNP ID |
- |
| Origin |
Germline |
| Segregation |
- |
| Frequency |
19/106 controls |
| Re-site |
- |
| VIP |
- |
| Methylation |
- |
| Average frequency (gnomAD v.2.1.1) |
Retrieve |
| Owner |
Johan den Dunnen |
| Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
| Created by |
Johan den Dunnen |
| Date created |
2004-12-07 22:14:45 +01:00 (CET) |
| Date last edited |
2019-01-22 12:49:06 +01:00 (CET) |

Variant on transcripts
Screenings
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