All variants in the FLNA gene

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

4 entries on 1 page. Showing entries 1 - 4.
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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     
-?/. - c.62_64dup r.(?) p.(Val21dup) - likely benign g.153599552_153599554dup g.154371184_154371186dup FLNA(NM_001110556.1):c.64_65insTCG (p.(Val21dup)), FLNA(NM_001110556.2):c.58_60dupTCG (p.V21dup), FLNA(NM_001110556.2):c.62_64dupTCG (p.V21dup) - FLNA_000281 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.62_64dup r.(?) p.(Val21dup) - VUS g.153599552_153599554dup g.154371184_154371186dup FLNA(NM_001110556.1):c.64_65insTCG (p.(Val21dup)), FLNA(NM_001110556.2):c.58_60dupTCG (p.V21dup), FLNA(NM_001110556.2):c.62_64dupTCG (p.V21dup) - FLNA_000281 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.62_64dup r.(?) p.(Val21dup) - benign g.153599552_153599554dup g.154371184_154371186dup FLNA(NM_001110556.1):c.64_65insTCG (p.(Val21dup)), FLNA(NM_001110556.2):c.58_60dupTCG (p.V21dup), FLNA(NM_001110556.2):c.62_64dupTCG (p.V21dup) - FLNA_000281 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.62_64dup r.(?) p.(Val21dup) - likely benign g.153599552_153599554dup g.154371184_154371186dup FLNA(NM_001110556.1):c.64_65insTCG (p.(Val21dup)), FLNA(NM_001110556.2):c.58_60dupTCG (p.V21dup), FLNA(NM_001110556.2):c.62_64dupTCG (p.V21dup) - FLNA_000281 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
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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.