TUBA1A c.875C>T ;(p.T292I)

Variant ID: 12-49579274-G-A

NM_006009.3(TUBA1A):c.875C>T;(p.T292I)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Exploring the Genetic Causality of Discordant Phenotypes in Familial Apparently Balanced Translocation Cases Using Whole Exome Sequencing.

Genes
Aristidou, Constantia C; Theodosiou, Athina A; Alexandrou, Angelos A; Papaevripidou, Ioannis I; Evangelidou, Paola P; Kosmaidou-Aravidou, Zoe Z; Behjati, Farkhondeh F; Christophidou-Anastasiadou, Violetta V; Tanteles, George A GA; Sismani, Carolina C
Publication Date: 2022-12-27

Variant appearance in text: TUBA1A: 875C>T; Thr292Ile
PubMed Link: 36672823
Variant Present in the following documents:
  • Main text
  • genes-14-00082.pdf
View BVdb publication page



Complementing the phenotypical spectrum of TUBA1A tubulinopathy and its role in early-onset epilepsies.

European Journal Of Human Genetics : Ejhg
Schröter, Julian J; Popp, Bernt B; Brennenstuhl, Heiko H; Döring, Jan H JH; Donze, Stephany H SH; Bijlsma, Emilia K EK; van Haeringen, Arie A; Huhle, Dagmar D; Jestaedt, Leonie L; Merkenschlager, Andreas A; Arelin, Maria M; Gräfe, Daniel D; Neuser, Sonja S; Oates, Stephanie S; Pal, Deb K DK; Parker, Michael J MJ; Lemke, Johannes R JR; Hoffmann, Georg F GF; Kölker, Stefan S; Harting, Inga I; Syrbe, Steffen S
Publication Date: 2022-03

Variant appearance in text: TUBA1A: 875C>T; T292I
PubMed Link: 35017693
Variant Present in the following documents:
  • 41431_2021_1027_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



The mutational and phenotypic spectrum of TUBA1A-associated tubulinopathy.

Orphanet Journal Of Rare Diseases
Hebebrand, Moritz M; Hüffmeier, Ulrike U; Trollmann, Regina R; Hehr, Ute U; Uebe, Steffen S; Ekici, Arif B AB; Kraus, Cornelia C; Krumbiegel, Mandy M; Reis, André A; Thiel, Christian T CT; Popp, Bernt B
Publication Date: 2019-02-11

Variant appearance in text: TUBA1A: 875C>T; Thr292Ile
PubMed Link: 30744660
Variant Present in the following documents:
  • 13023_2019_1020_MOESM2_ESM.xlsx, sheet 5
View BVdb publication page