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     
+/. 3 c.586C>T r.(?) p.(Arg196Trp) - pathogenic g.153596246G>A g.154367878G>A - - FLNA_000074 - PubMed: Robertson 2003, {OMIM300017.0026} - - Germline - - - 0 - Yu Sun
?/. - c.586C>T r.(?) p.(Arg196Trp) - VUS g.153596246G>A g.154367878G>A - - FLNA_000074 conflicting interpretations of pathogenicity; 6 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs137853317 Germline - 6/2764 individuals - 0 - Mohammed Faruq
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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.