FBN1 c.3713A>G ;(p.D1238G)

Variant ID: 15-48776140-T-C

NM_000138.4(FBN1):c.3713A>G;(p.D1238G)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


The clinical spectrum of missense mutations of the first aspartic acid of cbEGF-like domains in fibrillin-1 including a recessive family.

Human Mutation
Hilhorst-Hofstee, Yvonne Y; Rijlaarsdam, Marry E B ME; Scholte, Arthur J H A AJ; Swart-van den Berg, Marietta M; Versteegh, Michel I M MI; van der Schoot-van Velzen, Iris I; Schäbitz, Hans-Joachim HJ; Bijlsma, Emilia K EK; Baars, Marieke J MJ; Kerstjens-Frederikse, Wilhelmina S WS; Giltay, Jacques C JC; Hamel, Ben C BC; Breuning, Martijn H MH; Pals, Gerard G
Publication Date: 2010-12

Variant appearance in text: FBN1: 3713A>G; Asp1238Gly
PubMed Link: 20886638
Variant Present in the following documents:
  • Main text
  • humu0031-E1915.pdf
View BVdb publication page