Variant #0000052030 (NC_000023.10:g.153599498G>C, NM_001110556.1:c.116C>G (FLNA))
Individual ID |
00028749 |
Chromosome |
X |
Allele |
Parent #1 |
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.153599498G>C |
DNA change (hg38) |
g.154371130G>C |
Published as |
- |
ISCN |
- |
DB-ID |
FLNA_000036 |
Variant remarks |
not in236 control chromosomes |
Reference |
PubMed: Sheen 2005, OMIM:var0019 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Yu Sun |
Database submission license |
No license selected |
Created by |
Yu Sun |
Date created |
2010-04-02 16:29:25 +02:00 (CEST) |
Date last edited |
2012-06-19 21:10:58 +02:00 (CEST) |

Variant on transcripts
Screenings
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