CYP27A1 c.1471G>T ;(p.A491S)

Variant ID: 2-219679475-G-T

NM_000784.3(CYP27A1):c.1471G>T;(p.A491S)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Allelic prevalence and geographic distribution of cerebrotendinous xanthomatosis.

Orphanet Journal Of Rare Diseases
Pramparo, Tiziano T; Steiner, Robert D RD; Rodems, Steve S; Jenkinson, Celia C
Publication Date: 2023-01-17

Variant appearance in text: CYP27A1: 1471G>T; A491S; rs72551323
PubMed Link: 36650582
Variant Present in the following documents:
  • 13023_2022_2578_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Circulating messenger RNA variants as a potential biomarker for surveillance of hepatocellular carcinoma.

Frontiers In Oncology
Block, Timothy T; Zezulinski, Daniel D; Kaplan, David E DE; Lu, Jingqiao J; Zanine, Samantha S; Zhan, Tingting T; Doria, Cataldo C; Sayeed, Aejaz A
Publication Date: 2022

Variant appearance in text: rs72551323
PubMed Link: 36582804
Variant Present in the following documents:
  • Table_6.xlsx, sheet 1
View BVdb publication page



Re-analysis of whole-exome sequencing data uncovers novel diagnostic variants and improves molecular diagnostic yields for sudden death and idiopathic diseases.

Genome Medicine
Salfati, Elias L EL; Spencer, Emily G EG; Topol, Sarah E SE; Muse, Evan D ED; Rueda, Manuel M; Lucas, Jonathan R JR; Wagner, Glenn N GN; Campman, Steven S; Topol, Eric J EJ; Torkamani, Ali A
Publication Date: 2019-12-17

Variant appearance in text: CYP27A1: 1471G>T; Ala491Ser; rs72551323
PubMed Link: 31847883
Variant Present in the following documents:
  • 13073_2019_702_MOESM1_ESM.xlsx, sheet 4
View BVdb publication page



Identifying Extrinsic versus Intrinsic Drivers of Variation in Cell Behavior in Human iPSC Lines from Healthy Donors.

Cell Reports
Vigilante, Alessandra A; Laddach, Anna A; Moens, Nathalie N; Meleckyte, Ruta R; Leha, Andreas A; Ghahramani, Arsham A; Culley, Oliver J OJ; Kathuria, Annie A; Hurling, Chloe C; Vickers, Alice A; Wiseman, Erika E; Tewary, Mukul M; Zandstra, Peter W PW; , ; Durbin, Richard R; Fraternali, Franca F; Stegle, Oliver O; Birney, Ewan E; Luscombe, Nicholas M NM; Danovi, Davide D; Watt, Fiona M FM
Publication Date: 2019-02-19

Variant appearance in text: CYP27A1: A491S
PubMed Link: 30784590
Variant Present in the following documents:
  • mmc6.xlsx, sheet 1
  • mmc6.xlsx, sheet 2
View BVdb publication page



Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration.

Nature Genetics
Seddon, Johanna M JM; Yu, Yi Y; Miller, Elizabeth C EC; Reynolds, Robyn R; Tan, Perciliz L PL; Gowrisankar, Sivakumar S; Goldstein, Jacqueline I JI; Triebwasser, Michael M; Anderson, Holly E HE; Zerbib, Jennyfer J; Kavanagh, David D; Souied, Eric E; Katsanis, Nicholas N; Daly, Mark J MJ; Atkinson, John P JP; Raychaudhuri, Soumya S
Publication Date: 2013-11

Variant appearance in text: CYP27A1: A491S; rs72551323
PubMed Link: 24036952
Variant Present in the following documents:
  • NIHMS512112-supplement-2.xlsx, sheet 2
View BVdb publication page