All variants in the FLNA gene

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

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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     
+/. _1i_13i_ c.(-5087_-116-1)_(2022+1_2137-1)del r.0? p.0? - pathogenic g.(153592534_153592893)_(153599730_153607844)del - - - FLNA_000118 de novo deletion FLNA exon 2, 5, 13 with exon 15 and EMD gene normal PubMed: Reinstein 2013, Journal: Reinstein 2013 - - De novo - - - 0 - Johan den Dunnen
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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.