Full data view for gene FLNA

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     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+?/. 3 c.381G>C r.(?) p.(Lys127Asn) Maternal (confirmed) - likely pathogenic g.153596451C>G g.154368083C>G - - FLNA_000111 - PubMed: Reinstein 2013 - - Germline - - - 0 - DNA SEQ - - PVNH4 - PubMed: Reinstein 2013 3-generation family, affected male M3, affected mother (M3m) M - Australia - - 0 - - 2 M Walsh
+?/. 3 c.381G>C r.(?) p.(Lys127Asn) Unknown - likely pathogenic g.153596451C>G g.154368083C>G - - FLNA_000111 - PubMed: Reinstein 2013 - - De novo - - - 0 - DNA SEQ - - ? - PubMed: Reinstein 2013 mother of PatM3m F no Australia - - 0 - - 1 Johan den Dunnen
+/. 3 c.381G>C r.(?) p.(Lys127Asn) Maternal (confirmed) - pathogenic g.153596451C>G g.154368083C>G - - FLNA_000111 mother carrier of de novo variant PubMed: Reinstein 2013, Journal: Reinstein 2013 - - De novo - - - 0 - DNA SEQ, SEQ-NG - - EDS - PubMed: Reinstein 2013, Journal: Reinstein 2013 2-generation family, isolated case, heterozygous carrier mother with mild joint hypermobility (Beighton score 4/8) and no neurological symptomatology M - - - - 0 added by student Rosa van Ewijk - 2 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.