Variant #0000080521 (NC_000023.10:g.153596272T>C, FLNA(NM_001110556.1):c.560A>G)
Individual ID |
00051526 |
Chromosome |
X |
Allele |
Maternal (confirmed) |
Affects function (as reported) |
Probably affects function |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
likely pathogenic |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.153596272T>C |
DNA change (hg38) |
g.154367904T>C |
Published as |
153596304T>C |
ISCN |
- |
DB-ID |
FLNA_000094 |
Variant remarks |
- |
Reference |
- |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
yes |
Frequency |
- |
Re-site |
- |
VIP |
0 |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Variant not found in online data sets |
Owner |
Sébastien Moutton |
Database submission license |
No license selected |
Created by |
Sébastien Moutton |

Variant on transcripts
Screenings
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