FBN1 c.4437C>A ;(p.D1479E)

Variant ID: 15-48762853-G-T

NM_000138.4(FBN1):c.4437C>A;(p.D1479E)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Rare variants in FBN1 and FBN2 are associated with severe adolescent idiopathic scoliosis.

Human Molecular Genetics
Buchan, Jillian G JG; Alvarado, David M DM; Haller, Gabe E GE; Cruchaga, Carlos C; Harms, Matthew B MB; Zhang, Tianxiao T; Willing, Marcia C MC; Grange, Dorothy K DK; Braverman, Alan C AC; Miller, Nancy H NH; Morcuende, Jose A JA; Tang, Nelson Leung-Sang NL; Lam, Tsz-Ping TP; Ng, Bobby Kin-Wah BK; Cheng, Jack Chun-Yiu JC; Dobbs, Matthew B MB; Gurnett, Christina A CA
Publication Date: 2014-10-01

Variant appearance in text: FBN1: D1479E
PubMed Link: 24833718
Variant Present in the following documents:
  • Main text
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