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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