FBN1 c.8222T>C ;(p.I2741T)

Variant ID: 15-48704770-A-G

NM_000138.4(FBN1):c.8222T>C;(p.I2741T)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Asprosin, a Fasting-Induced Glucogenic Protein Hormone.

Cell
Romere, Chase C; Duerrschmid, Clemens C; Bournat, Juan J; Constable, Petra P; Jain, Mahim M; Xia, Fan F; Saha, Pradip K PK; Del Solar, Maria M; Zhu, Bokai B; York, Brian B; Sarkar, Poonam P; Rendon, David A DA; Gaber, M Waleed MW; LeMaire, Scott A SA; Coselli, Joseph S JS; Milewicz, Dianna M DM; Sutton, V Reid VR; Butte, Nancy F NF; Moore, David D DD; Chopra, Atul R AR
Publication Date: 2016-04-21

Variant appearance in text: FBN1: 8222T>C
PubMed Link: 27087445
Variant Present in the following documents:
  • Main text
View BVdb publication page



Marfanoid-progeroid-lipodystrophy syndrome: a newly recognized fibrillinopathy.

European Journal Of Human Genetics : Ejhg
Passarge, Eberhard E; Robinson, Peter N PN; Graul-Neumann, Luitgard M LM
Publication Date: 2016-08

Variant appearance in text: FBN1: 8222T>C; Ile2741Thr
PubMed Link: 26860060
Variant Present in the following documents:
  • Main text
View BVdb publication page



De novo heterozygous FBN1 mutations in the extreme C-terminal region cause progeroid fibrillinopathy.

American Journal Of Medical Genetics. Part A
Garg, Abhimanyu A; Xing, Chao C
Publication Date: 2014-05

Variant appearance in text: FBN1: 8222T>C; Ile2741Thr
PubMed Link: 24665001
Variant Present in the following documents:
  • Main text
View BVdb publication page