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     
+?/. 2 c.238C>G r.(?) p.(Leu80Val) - likely pathogenic g.153599376G>C g.154371008G>C - - FLNA_000123 - - - - De novo - - - 0 - Elyssa Cannaerts
+/. - c.238C>G r.(?) p.(Leu80Val) - pathogenic g.153599376G>C g.154371008G>C FLNA(NM_001110556.2):c.238C>G (p.L80V) - FLNA_000123 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - 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.