PDE11A c.2140G>T ;(p.A714S)

Variant ID: 2-178576510-C-A

NM_016953.3(PDE11A):c.2140G>T;(p.A714S)

This variant was identified in 1 publication

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

Patient-derived iPSCs link elevated mitochondrial respiratory complex I function to osteosarcoma in Rothmund-Thomson syndrome.

Plos Genetics
Jewell, Brittany E BE; Xu, An A; Zhu, Dandan D; Huang, Mo-Fan MF; Lu, Linchao L; Liu, Mo M; Underwood, Erica L EL; Park, Jun Hyoung JH; Fan, Huihui H; Gingold, Julian A JA; Zhou, Ruoji R; Tu, Jian J; Huo, Zijun Z; Liu, Ying Y; Jin, Weidong W; Chen, Yi-Hung YH; Xu, Yitian Y; Chen, Shu-Hsia SH; Rainusso, Nino N; Berg, Nathaniel K NK; Bazer, Danielle A DA; Vellano, Christopher C; Jones, Philip P; Eltzschig, Holger K HK; Zhao, Zhongming Z; Kaipparettu, Benny Abraham BA; Zhao, Ruiying R; Wang, Lisa L LL; Lee, Dung-Fang DF
Publication Date: 2021-12

Variant appearance in text: PDE11A: A714S
PubMed Link: 34965247
Variant Present in the following documents:
  • pgen.1009971.s006.xlsx, sheet 2
View BVdb publication page


Patient-derived iPSCs link elevated mitochondrial respiratory complex I function to osteosarcoma in Rothmund-Thomson syndrome.

Plos Genetics
Jewell, Brittany E BE; Xu, An A; Zhu, Dandan D; Huang, Mo-Fan MF; Lu, Linchao L; Liu, Mo M; Underwood, Erica L EL; Park, Jun Hyoung JH; Fan, Huihui H; Gingold, Julian A JA; Zhou, Ruoji R; Tu, Jian J; Huo, Zijun Z; Liu, Ying Y; Jin, Weidong W; Chen, Yi-Hung YH; Xu, Yitian Y; Chen, Shu-Hsia SH; Rainusso, Nino N; Berg, Nathaniel K NK; Bazer, Danielle A DA; Vellano, Christopher C; Jones, Philip P; Eltzschig, Holger K HK; Zhao, Zhongming Z; Kaipparettu, Benny Abraham BA; Zhao, Ruiying R; Wang, Lisa L LL; Lee, Dung-Fang DF
Publication Date: 2021-12

Variant appearance in text: PDE11A: A714S
PubMed Link: 34965247
Variant Present in the following documents:
  • pgen.1009971.s006.xlsx, sheet 2
View BVdb publication page