FBN1 c.3677G>C ;(p.G1226A)

Variant ID: 15-48777606-C-G

NM_000138.4(FBN1):c.3677G>C;(p.G1226A)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


A mutation in TGFB3 associated with a syndrome of low muscle mass, growth retardation, distal arthrogryposis and clinical features overlapping with Marfan and Loeys-Dietz syndrome.

American Journal Of Medical Genetics. Part A
Rienhoff, Hugh Young HY; Yeo, Chang-Yeol CY; Morissette, Rachel R; Khrebtukova, Irina I; Melnick, Jonathan J; Luo, Shujun S; Leng, Nan N; Kim, Yeon-Jin YJ; Schroth, Gary G; Westwick, John J; Vogel, Hannes H; McDonnell, Nazli N; Hall, Judith G JG; Whitman, Malcolm M
Publication Date: 2013-08

Variant appearance in text: FBN1: G1226A
PubMed Link: 23824657
Variant Present in the following documents:
  • Main text
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