All variants in the FLNA gene

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

7 entries on 1 page. Showing entries 1 - 7.
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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     
+/. 5 c.760G>A r.(?) p.(Glu254Lys) - pathogenic g.153595873C>T g.154367505C>T - - FLNA_000022 variant likely de novo PubMed: Fennell 2015, Journal: Fennell 2015 - - Unknown - - - 0 - Stephen Robertson
+/. 5 c.760G>A r.(?) p.(Glu254Lys) - pathogenic g.153595873C>T g.154367505C>T - - FLNA_000022 - PubMed: Robertson 2003, {OMIM300017.0010} - rs28935470 Germline - - - 0 - Yu Sun
+/. 5 c.760G>A r.(?) p.(Glu254Lys) - pathogenic g.153595873C>T g.154367505C>T - - FLNA_000022 - PubMed: Robertson 2003, {OMIM300017.0010} - rs28935470 Germline - - - 0 - Yu Sun
+/. 5 c.760G>A r.(?) p.(Glu254Lys) - pathogenic g.153595873C>T g.154367505C>T - - FLNA_000022 - PubMed: Robertson 2003, {OMIM300017.0010} - rs28935470 Germline - - - 0 - Yu Sun
+/. 5 c.760G>A r.(?) p.(Glu254Lys) - pathogenic g.153595873C>T g.154367505C>T - - FLNA_000022 - PubMed: Robertson 2003, {OMIM300017.0010} - rs28935470 Germline - - - 0 - Yu Sun
+/. - c.760G>A r.(?) p.(Glu254Lys) - pathogenic g.153595873C>T g.154367505C>T FLNA(NM_001110556.2):c.760G>A (p.E254K) - FLNA_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+?/. - c.760G>A r.(?) p.(Glu254Lys) - likely pathogenic g.153595873C>T g.154367505C>T FLNA(NM_001110556.2):c.760G>A (p.E254K) - FLNA_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
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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.