FBN1 c.3337+221T>G

Variant ID: 15-48780089-A-C

NM_000138.4(FBN1):c.3337+221T>G

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology
Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P
Publication Date: 2018

Variant appearance in text: FBN1: 3337+221T>G; rs7176364
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_5.xlsx, sheet 1
View BVdb publication page



Mutations in the beta propeller WDR72 cause autosomal-recessive hypomaturation amelogenesis imperfecta.

American Journal Of Human Genetics
El-Sayed, Walid W; Parry, David A DA; Shore, Roger C RC; Ahmed, Mushtaq M; Jafri, Hussain H; Rashid, Yasmin Y; Al-Bahlani, Suhaila S; Al Harasi, Sharifa S; Kirkham, Jennifer J; Inglehearn, Chris F CF; Mighell, Alan J AJ
Publication Date: 2009-11

Variant appearance in text: rs7176364
PubMed Link: 19853237
Variant Present in the following documents:
  • mmc1.pdf
View BVdb publication page