PDHA2 c.679A>G ;(p.M227V)

Variant ID: 4-96761980-A-G

NM_005390.4(PDHA2):c.679A>G;(p.M227V)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Single C-to-T substitution using engineered APOBEC3G-nCas9 base editors with minimum genome- and transcriptome-wide off-target effects.

Science Advances
Lee, Sangsin S; Ding, Ning N; Sun, Yidi Y; Yuan, Tanglong T; Li, Jing J; Yuan, Qichen Q; Liu, Lizhong L; Yang, Jie J; Wang, Qian Q; Kolomeisky, Anatoly B AB; Hilton, Isaac B IB; Zuo, Erwei E; Gao, Xue X
Publication Date: 2020-07

Variant appearance in text: PDHA2: 679A>G; Met227Val
PubMed Link: 32832622
Variant Present in the following documents:
  • aba1773_Data_file_S1.xlsx, sheet 2
View BVdb publication page



Linked homozygous BMPR1B and PDHA2 variants in a consanguineous family with complex digit malformation and male infertility.

European Journal Of Human Genetics : Ejhg
Yıldırım, Yeşerin Y; Ouriachi, Toufik T; Woehlbier, Ute U; Ouahioune, Wahiba W; Balkan, Mahmut M; Malik, Sajid S; Tolun, Aslıhan A
Publication Date: 2018-06

Variant appearance in text: PDHA2: 679A>G; Met227Val; rs200969445
PubMed Link: 29581481
Variant Present in the following documents:
  • Main text
View BVdb publication page



Patients with genetically heterogeneous synchronous colorectal cancer carry rare damaging germline mutations in immune-related genes.

Nature Communications
Cereda, Matteo M; Gambardella, Gennaro G; Benedetti, Lorena L; Iannelli, Fabio F; Patel, Dominic D; Basso, Gianluca G; Guerra, Rosalinda F RF; Mourikis, Thanos P TP; Puccio, Ignazio I; Sinha, Shruti S; Laghi, Luigi L; Spencer, Jo J; Rodriguez-Justo, Manuel M; Ciccarelli, Francesca D FD
Publication Date: 2016-07-05

Variant appearance in text: PDHA2: M227V
PubMed Link: 27377421
Variant Present in the following documents:
  • ncomms12072-s6.xlsx, sheet 1
View BVdb publication page