FBN1 c.165-1288T>C

Variant ID: 15-48906577-A-G

NM_000138.4(FBN1):c.165-1288T>C

This variant was identified in 2 publications

View GRCh38 version.




Publications:


A phenome-wide association study of 26 mendelian genes reveals phenotypic expressivity of common and rare variants within the general population.

Plos Genetics
Tcheandjieu, Catherine C; Aguirre, Matthew M; Gustafsson, Stefan S; Saha, Priyanka P; Potiny, Praneetha P; Haendel, Melissa M; Ingelsson, Erik E; Rivas, Manuel A MA; Priest, James R JR
Publication Date: 2020-11

Variant appearance in text: rs612617
PubMed Link: 33226994
Variant Present in the following documents:
  • pgen.1008802.s003.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: rs612617
PubMed Link: 19853237
Variant Present in the following documents:
  • mmc1.pdf
View BVdb publication page