DHCR7 c.1328G>A ;(p.R443H)

Variant ID: 11-71146521-C-T

NM_001360.2(DHCR7):c.1328G>A;(p.R443H)

This variant was identified in 9 publications

View GRCh38 version.




Publications:


Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23

Variant appearance in text: DHCR7: 1328G>A; Arg443His
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Integrated gene analyses of de novo variants from 46,612 trios with autism and developmental disorders.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Wang, Tianyun T; Kim, Chang N CN; Bakken, Trygve E TE; Gillentine, Madelyn A MA; Henning, Barbara B; Mao, Yafei Y; Gilissen, Christian C; , ; Nowakowski, Tomasz J TJ; Eichler, Evan E EE
Publication Date: 2022-11-15

Variant appearance in text: DHCR7: 1328G>A; Arg443His
PubMed Link: 36350923
Variant Present in the following documents:
  • pnas.2203491119.sd01.xlsx, sheet 1
View BVdb publication page



Integrated longitudinal analysis of adult grade 4 diffuse gliomas with long-term relapse interval revealed upregulation of TGF-β signaling in recurrent tumors.

Neuro-Oncology
Kashani, Elham E; Schnidrig, Désirée D; Hashemi Gheinani, Ali A; Ninck, Martina Selina MS; Zens, Philipp P; Maragkou, Theoni T; Baumgartner, Ulrich U; Schucht, Philippe P; Rätsch, Gunnar G; Rubin, Mark A MA; Berezowska, Sabina S; Ng, Charlotte K Y CKY; Vassella, Erik E; ,
Publication Date: 2022-09-17

Variant appearance in text: DHCR7: 1328G>A; Arg443His; rs781687341
PubMed Link: 36124685
Variant Present in the following documents:
  • noac220_suppl_supplementary_table_s3.xlsx, sheet 1
View BVdb publication page



Association of Vitamin D Anabolism-Related Gene Polymorphisms and Susceptibility to Uterine Leiomyomas.

Frontiers In Genetics
Xie, Shangdan S; Jiang, Mengying M; Liu, Hejing H; Xue, Fang F; Chen, Xin X; Zhu, Xueqiong X
Publication Date: 2022

Variant appearance in text: rs781687341
PubMed Link: 35795205
Variant Present in the following documents:
  • Main text
  • fgene-13-844684.pdf
View BVdb publication page



The prevalence, genetic complexity and population-specific founder effects of human autosomal recessive disorders.

Npj Genomic Medicine
Xiao, Qingyang Q; Lauschke, Volker M VM
Publication Date: 2021-06-02

Variant appearance in text: N/A
PubMed Link: 34078906
Variant Present in the following documents:
View BVdb publication page



Investigation of 7-dehydrocholesterol reductase pathway to elucidate off-target prenatal effects of pharmaceuticals: a systematic review.

The Pharmacogenomics Journal
Boland, M R MR; Tatonetti, N P NP
Publication Date: 2016-10

Variant appearance in text: DHCR7: R443H
PubMed Link: 27401223
Variant Present in the following documents:
  • tpj201648x1.pdf
View BVdb publication page



Decreased cerebral spinal fluid neurotransmitter levels in Smith-Lemli-Opitz syndrome.

Journal Of Inherited Metabolic Disease
Sparks, S E SE; Wassif, C A CA; Goodwin, H H; Conley, S K SK; Lanham, D C DC; Kratz, L E LE; Hyland, K K; Gropman, A A; Tierney, E E; Porter, F D FD
Publication Date: 2014-05

Variant appearance in text: DHCR7: R443H
PubMed Link: 24500076
Variant Present in the following documents:
  • Main text
View BVdb publication page



Mutational spectrum of smith-lemli-opitz syndrome patients in hungary.

Molecular Syndromology
Balogh, I I; Koczok, K K; Szabó, G P GP; Török, O O; Hadzsiev, K K; Csábi, G G; Balogh, L L; Dzsudzsák, E E; Ajzner, E E; Szabó, L L; Csákváry, V V; Oláh, A V AV
Publication Date: 2012-11

Variant appearance in text: DHCR7: 1328G>A; Arg443His
PubMed Link: 23293579
Variant Present in the following documents:
  • Main text
View BVdb publication page



Recent insights into the Smith-Lemli-Opitz syndrome.

Clinical Genetics
Yu, H H; Patel, S B SB
Publication Date: 2005-11

Variant appearance in text: DHCR7: R443H
PubMed Link: 16207203
Variant Present in the following documents:
  • Main text
View BVdb publication page