FBN1 c.35G>T ;(p.G12V)

Variant ID: 15-48936932-C-A

NM_000138.4(FBN1):c.35G>T;(p.G12V)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Genomic retargeting of p53 and CTCF is associated with transcriptional changes during oncogenic HRas-induced transformation.

Communications Biology
Schwartz, Michal M; Portugez, Avital Sarusi AS; Attia, Bracha Zukerman BZ; Tannenbaum, Miriam M; Cohen, Leslie L; Loza, Olga O; Chase, Emily E; Turman, Yousef Y; Kaplan, Tommy T; Salah, Zaidoun Z; Hakim, Ofir O
Publication Date: 2020-11-25

Variant appearance in text: FBN1: G12V
PubMed Link: 33239721
Variant Present in the following documents:
  • 42003_2020_1398_MOESM1_ESM.pdf
View BVdb publication page



Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports
Šimčíková, Daniela D; Heneberg, Petr P
Publication Date: 2019-12-09

Variant appearance in text: FBN1: 35G>T; G12V
PubMed Link: 31819097
Variant Present in the following documents:
  • 41598_2019_54976_MOESM2_ESM.xlsx, sheet 9
View BVdb publication page