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     
?/. 4 c.651C>T r.(=) p.(=) - VUS g.153596078G>A g.154367710G>A - - FLNA_000013 - - - rs34644500 Germline - - - 0 - Yu Sun
-?/. - c.651C>T r.(?) p.(Asp217=) - likely benign g.153596078G>A - FLNA(NM_001110556.2):c.651C>T (p.D217=) - FLNA_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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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.