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     
+/. _1_48_ c.(?_-249)_(*317_?)dup r.? p.? - pathogenic g.153576900_153603006dup - - - FLNA_000012 2.5 Mb duplication from IDH intron 1 (base 3377) to the pseudoautosomal region Variant Error [EMISMATCH/EUNCERTAIN]: This transcript variant has an error. Please fix this entry and then remove this message. PubMed: Fox 1998, PubMed: Fink 1997 - - Germline - - - 0 - Yu Sun
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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.