All variants in the FLNA gene

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

2 entries on 1 page. Showing entries 1 - 2.
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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     
+/. 6 c.885_892del r.(?) p.(Asn296Glufs*38) - pathogenic g.153595197_153595204del g.154366829_154366836del 883_880del8 (incorrect) - FLNA_000112 - PubMed: Reinstein 2013, Journal: Reinstein 2013 - - Germline yes - - 0 - Johan den Dunnen
+/. 6 c.885_892del r.0 p.0 - pathogenic g.153595197_153595204del g.154366829_154366836del 883_880del8 (incorrect) - FLNA_000112 de novo variant (inherited by daughter); random X-inactivation (57:33) 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.