DMD c.5485C>G ;(p.Q1829E)

Variant ID: X-32364161-G-C

NM_004006.2(DMD):c.5485C>G;(p.Q1829E)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Exome sequencing in fetuses with short long bones detected by ultrasonography: A retrospective cohort study.

Frontiers In Genetics
Huang, Yanlin Y; Liu, Chang C; Ding, Hongke H; Wang, Yunan Y; Yu, Lihua L; Guo, Fangfang F; Li, Fake F; Shi, Xiaomei X; Zhang, Yan Y; Yin, Aihua A
Publication Date: 2023

Variant appearance in text: DMD: 5485C>G; Gln1829Glu
PubMed Link: 36923788
Variant Present in the following documents:
  • Table3.xlsx, sheet 1
View BVdb publication page



Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics
Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,
Publication Date: 2022-12-01

Variant appearance in text: DMD: Q1829E; rs754765424
PubMed Link: 36413997
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



Whole-exon sequencing of human myeloma cell lines shows mutations related to myeloma patients at relapse with major hits in the DNA regulation and repair pathways.

Journal Of Hematology & Oncology
Tessoulin, Benoît B; Moreau-Aubry, Agnès A; Descamps, Géraldine G; Gomez-Bougie, Patricia P; Maïga, Sophie S; Gaignard, Alban A; Chiron, David D; Ménoret, Emmanuelle E; Le Gouill, Steven S; Moreau, Philippe P; Amiot, Martine M; Pellat-Deceunynck, Catherine C
Publication Date: 2018-12-13

Variant appearance in text: DMD: 5485C>G; Q1829E; rs754765424
PubMed Link: 30545397
Variant Present in the following documents:
  • 13045_2018_679_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Whole-exome Sequencing Helps the Diagnosis and Treatment in Children with Neurodevelopmental Delay Accompanied Unexplained Dyspnea.

Scientific Reports
Tong, Wenjia W; Wang, Yajian Y; Lu, Yun Y; Ye, Tongsheng T; Song, Conglei C; Xu, Yuanyuan Y; Li, Min M; Ding, Jie J; Duan, Yuanyuan Y; Zhang, Le L; Gu, Weiyue W; Zhao, Xiaoling X; Yang, Xiu-An XA; Jin, Danqun D
Publication Date: 2018-03-26

Variant appearance in text: DMD: 5485C>G; Q1829E; rs754765424
PubMed Link: 29581464
Variant Present in the following documents:
  • 41598_2018_23503_MOESM1_ESM.xls, sheet 20
View BVdb publication page



Whole-genome sequencing of the world's oldest people.

Plos One
Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK
Publication Date: 2014

Variant appearance in text: DMD: Q1829E
PubMed Link: 25390934
Variant Present in the following documents:
  • pone.0112430.s004.xlsx, sheet 1
View BVdb publication page



Massively parallel sequencing of patients with intellectual disability, congenital anomalies and/or autism spectrum disorders with a targeted gene panel.

Plos One
Brett, Maggie M; McPherson, John J; Zang, Zhi Jiang ZJ; Lai, Angeline A; Tan, Ee-Shien ES; Ng, Ivy I; Ong, Lai-Choo LC; Cham, Breana B; Tan, Patrick P; Rozen, Steve S; Tan, Ene-Choo EC
Publication Date: 2014

Variant appearance in text: DMD: Q1829E
PubMed Link: 24690944
Variant Present in the following documents:
  • Main text
  • pone.0093409.pdf
View BVdb publication page