FBN1 c.5198G>T ;(p.C1733F)

Variant ID: 15-48755305-C-A

NM_000138.4(FBN1):c.5198G>T;(p.C1733F)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Acromicric dysplasia with stiff skin syndrome-like severe cutaneous presentation in an 8-year-old boy with a missense FBN1 mutation: Case report and literature review.

Molecular Genetics & Genomic Medicine
Wang, Tao T; Yang, Yuyan Y; Dong, Qi Q; Zhu, Huijuan H; Liu, Yuehua Y
Publication Date: 2020-07

Variant appearance in text: FBN1: Cys1733Phe
PubMed Link: 32406602
Variant Present in the following documents:
  • Main text
  • MGG3-8-e1282.pdf
View BVdb publication page



iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Scientific Reports
Wang, Meng M; Wei, Liping L
Publication Date: 2016-08-16

Variant appearance in text: FBN1: C1733F
PubMed Link: 27527004
Variant Present in the following documents:
  • srep31321-s3.xls, sheet 1
View BVdb publication page