Variant #0000080497 (NC_000023.10:g.153596212G>A, NM_001110556.1:c.620C>T (FLNA))
| Individual ID |
00051503 |
| Chromosome |
X |
| Allele |
Maternal (confirmed) |
| Affects function (as reported) |
Affects function |
| Affects function (by curator) |
Not classified |
| Classification method |
- |
| Clinical classification |
pathogenic |
| DNA change (genomic) (Relative to hg19 / GRCh37) |
g.153596212G>A |
| DNA change (hg38) |
g.154367844G>A |
| Published as |
- |
| ISCN |
- |
| DB-ID |
FLNA_000021 See all 6 reported entries |
| Variant remarks |
- |
| Reference |
- |
| ClinVar ID |
- |
| dbSNP ID |
rs28935469 |
| Origin |
Germline |
| Segregation |
yes |
| Frequency |
- |
| Re-site |
- |
| VIP |
- |
| Methylation |
- |
| Average frequency (gnomAD v.2.1.1) |
Retrieve |
| Owner |
Sébastien Moutton |
| Database submission license |
No license selected |
| Created by |
Sébastien Moutton |
| Date created |
2015-09-30 23:12:51 +02:00 (CEST) |
| Date last edited |
2015-10-02 22:25:28 +02:00 (CEST) |

Variant on transcripts
Screenings
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