PTEN c.220_222delinsTGT ;(p.R74C)

Variant ID: 10-89690813-AGA-TGT

NM_000314.4(PTEN):c.220_222delinsTGT;(p.R74C)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Novel NR2F1 variants likely disrupt DNA binding: molecular modeling in two cases, review of published cases, genotype-phenotype correlation, and phenotypic expansion of the Bosch-Boonstra-Schaaf optic atrophy syndrome.

Cold Spring Harbor Molecular Case Studies
Kaiwar, Charu C; Zimmermann, Michael T MT; Ferber, Matthew J MJ; Niu, Zhiyv Z; Urrutia, Raul A RA; Klee, Eric W EW; Babovic-Vuksanovic, Dusica D
Publication Date: 2017-11

Variant appearance in text: PTEN: Arg74Cys
PubMed Link: 28963436
Variant Present in the following documents:
  • Main text
  • KaiwarMCS002162.pdf
View BVdb publication page