All variants in the FLNA gene

Information The variants shown are described using the NM_001110556.1 transcript reference sequence.

1 entry on 1 page. Showing entry 1.
Legend   How to query  

Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
+/. 5 c.817G>C r.(?) p.(Ala273Pro) - pathogenic g.153595816C>G g.154367448C>G - - FLNA_000072 - PubMed: Robertson 2003 - - Germline - - - 0 - Yu Sun
Legend   How to query  

When using this database please refer to Sun et al. (2010), Terminal Osseous Dysplasia is caused by a single recurrent mutation in the FLNA gene. Am.J.Hum.Genet. 87: 146-153.