All variants in the FLNA gene

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

6 entries on 1 page. Showing entries 1 - 6.
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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.620C>T r.(?) p.(Pro207Leu) - pathogenic g.153596212G>A g.154367844G>A - - FLNA_000021 - PubMed: Robertson 2003 - rs28935469 Germline - - - 0 - Yu Sun
+/. 3 c.620C>T r.(?) p.(Pro207Leu) - pathogenic g.153596212G>A g.154367844G>A - - FLNA_000021 - PubMed: Robertson 2003 - rs28935469 Germline - - - 0 - Yu Sun
+/. 3 c.620C>T r.(?) p.(Pro207Leu) - pathogenic g.153596212G>A g.154367844G>A - - FLNA_000021 de novo, in patient PubMed: Robertson 2006 - rs28935469 De novo - - - 0 - Yu Sun
+/. 3 c.620C>T r.(?) p.(Pro207Leu) - pathogenic g.153596212G>A g.154367844G>A - - FLNA_000021 de novo, in patient PubMed: Robertson 2006, {OMIM300017.0009} - rs28935469 De novo - - - 0 - Yu Sun
+/. 3 c.620C>T r.(?) p.(Pro207Leu) - pathogenic g.153596212G>A g.154367844G>A - - FLNA_000021 - - - rs28935469 Germline yes - - 0 - Sébastien Moutton
+/. 3 c.620C>T r.(?) p.(Pro207Leu) - likely pathogenic g.153596212G>A g.154367844G>A - - FLNA_000021 - - - rs28935469 Germline yes - - 0 - Sébastien Moutton
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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.