FBN1 c.4925A>G ;(p.D1642G)

Variant ID: 15-48757782-T-C

NM_000138.4(FBN1):c.4925A>G;(p.D1642G)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Survival, causes of death, and cardiovascular events in patients with Marfan syndrome.

Molecular Genetics & Genomic Medicine
Vanem, Thy Thy TT; Geiran, Odd Ragnar OR; Krohg-Sørensen, Kirsten K; Røe, Cecilie C; Paus, Benedicte B; Rand-Hendriksen, Svend S
Publication Date: 2018-11

Variant appearance in text: FBN1: 4925A>G; Asp1642Gly
PubMed Link: 30393980
Variant Present in the following documents:
  • MGG3-6-1114-s001.pdf
View BVdb publication page



Qualitative and quantitative analysis of FBN1 mRNA from 16 patients with Marfan Syndrome.

Bmc Medical Genetics
Tjeldhorn, Lena L; Amundsen, Silja Svanstrøm SS; Barøy, Tuva T; Rand-Hendriksen, Svend S; Geiran, Odd O; Frengen, Eirik E; Paus, Benedicte B
Publication Date: 2015-12-18

Variant appearance in text: FBN1: Asp1642Gly
PubMed Link: 26684006
Variant Present in the following documents:
  • Main text
  • 12881_2015_Article_260.pdf
View BVdb publication page