All variants in the FLNA gene

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

3 entries on 1 page. Showing entries 1 - 3.
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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     
+?/. 3 c.381G>C r.(?) p.(Lys127Asn) - likely pathogenic g.153596451C>G g.154368083C>G - - FLNA_000111 - PubMed: Reinstein 2013 - - Germline - - - 0 - M Walsh
+?/. 3 c.381G>C r.(?) p.(Lys127Asn) - likely pathogenic g.153596451C>G g.154368083C>G - - FLNA_000111 - PubMed: Reinstein 2013 - - De novo - - - 0 - Johan den Dunnen
+/. 3 c.381G>C r.(?) p.(Lys127Asn) - pathogenic g.153596451C>G g.154368083C>G - - FLNA_000111 mother carrier of de novo variant 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.