NPHS1 c.881C>T ;(p.T294I)

Variant ID: 19-36340009-G-A

NM_004646.3(NPHS1):c.881C>T;(p.T294I)

This variant was identified in 11 publications

View GRCh38 version.




Publications:


Mitochondrial Disease and the Kidney With a Special Focus on CoQ10 Deficiency.

Kidney International Reports
Schijvens, Anne M AM; van de Kar, Nicole C NC; Bootsma-Robroeks, Charlotte M CM; Cornelissen, Elisabeth A EA; van den Heuvel, Lambertus P LP; Schreuder, Michiel F MF
Publication Date: 2020-12

Variant appearance in text: NPHS1: 881C>T; Thr294Ile
PubMed Link: 33305107
Variant Present in the following documents:
  • mmc1.pdf
View BVdb publication page



A comprehensive analysis of NPHS1 gene mutations in patients with sporadic focal segmental glomerulosclerosis.

Bmc Medical Genetics
Zhuo, Ling L; Huang, Lulin L; Yang, Zhenglin Z; Li, Guisen G; Wang, Li L
Publication Date: 2019-06-19

Variant appearance in text: NPHS1: T294I; rs113825926
PubMed Link: 31216994
Variant Present in the following documents:
  • Main text
  • 12881_2019_Article_845.pdf
View BVdb publication page



An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Database : The Journal Of Biological Databases And Curation
Famiglietti, M L ML; Estreicher, A A; Breuza, L L; Poux, S S; Redaschi, N N; Xenarios, I I; Bridge, A A; ,
Publication Date: 2019-01-01

Variant appearance in text: NPHS1: 881C>T; Thr294Ile
PubMed Link: 30937429
Variant Present in the following documents:
  • famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1
View BVdb publication page



Whole-Exome Sequencing Study of Extreme Phenotypes of NAFLD.

Hepatology Communications
Kleinstein, Sarah E SE; Rein, Matthew M; Abdelmalek, Manal F MF; Guy, Cynthia D CD; Goldstein, David B DB; Mae Diehl, Anna A; Moylan, Cynthia A CA
Publication Date: 2018-09

Variant appearance in text: NPHS1: T294I; rs113825926
PubMed Link: 30202817
Variant Present in the following documents:
  • HEP4-2-1021-s001.xlsx, sheet 3
View BVdb publication page



Multi-OMICS analyses unveil STAT1 as a potential modifier gene in mevalonate kinase deficiency.

Annals Of The Rheumatic Diseases
Carapito, Raphael R; Carapito, Christine C; Morlon, Aurore A; Paul, Nicodème N; Vaca Jacome, Alvaro Sebastian AS; Alsaleh, Ghada G; Rolli, Véronique V; Tahar, Ouria O; Aouadi, Ismail I; Rompais, Magali M; Delalande, François F; Pichot, Angélique A; Georgel, Philippe P; Messer, Laurent L; Sibilia, Jean J; Cianferani, Sarah S; Van Dorsselaer, Alain A; Bahram, Seiamak S
Publication Date: 2018-11

Variant appearance in text: NPHS1: T294I; rs113825926
PubMed Link: 30030262
Variant Present in the following documents:
  • annrheumdis-2018-213524supp002.xlsx, sheet 1
View BVdb publication page



COQ2 nephropathy: a treatable cause of nephrotic syndrome in children.

Pediatric Nephrology (Berlin, Germany)
Starr, Michelle C MC; Chang, Irene J IJ; Finn, Laura S LS; Sun, Angela A; Larson, Austin A AA; Goebel, Jens J; Hanevold, Coral C; Thies, Jenny J; Van Hove, Johan L K JLK; Hingorani, Sangeeta R SR; Lam, Christina C
Publication Date: 2018-07

Variant appearance in text: NPHS1: Thr294Ile
PubMed Link: 29637272
Variant Present in the following documents:
  • Main text
View BVdb publication page



iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Scientific Reports
Wang, Meng M; Wei, Liping L
Publication Date: 2016-08-16

Variant appearance in text: NPHS1: T294I
PubMed Link: 27527004
Variant Present in the following documents:
  • srep31321-s4.xls, sheet 1
View BVdb publication page



The impact of tumor profiling approaches and genomic data strategies for cancer precision medicine.

Genome Medicine
Garofalo, Andrea A; Sholl, Lynette L; Reardon, Brendan B; Taylor-Weiner, Amaro A; Amin-Mansour, Ali A; Miao, Diana D; Liu, David D; Oliver, Nelly N; MacConaill, Laura L; Ducar, Matthew M; Rojas-Rudilla, Vanesa V; Giannakis, Marios M; Ghazani, Arezou A; Gray, Stacy S; Janne, Pasi P; Garber, Judy J; Joffe, Steve S; Lindeman, Neal N; Wagle, Nikhil N; Garraway, Levi A LA; Van Allen, Eliezer M EM
Publication Date: 2016-07-26

Variant appearance in text: NPHS1: 881C>T; T294I; rs113825926
PubMed Link: 27460824
Variant Present in the following documents:
  • 13073_2016_333_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Molecular analysis of urothelial cancer cell lines for modeling tumor biology and drug response.

Oncogene
Nickerson, M L ML; Witte, N N; Im, K M KM; Turan, S S; Owens, C C; Misner, K K; Tsang, S X SX; Cai, Z Z; Wu, S S; Dean, M M; Costello, J C JC; Theodorescu, D D
Publication Date: 2017-01-05

Variant appearance in text: NPHS1: T294I; rs113825926
PubMed Link: 27270441
Variant Present in the following documents:
  • onc2016172x3.xls, sheet 3
View BVdb publication page



Simultaneous sequencing of 24 genes associated with steroid-resistant nephrotic syndrome.

Clinical Journal Of The American Society Of Nephrology : Cjasn
McCarthy, Hugh J HJ; Bierzynska, Agnieszka A; Wherlock, Matt M; Ognjanovic, Milos M; Kerecuk, Larissa L; Hegde, Shivaram S; Feather, Sally S; Gilbert, Rodney D RD; Krischock, Leah L; Jones, Caroline C; Sinha, Manish D MD; Webb, Nicholas J A NJ; Christian, Martin M; Williams, Margaret M MM; Marks, Stephen S; Koziell, Ania A; Welsh, Gavin I GI; Saleem, Moin A MA; ,
Publication Date: 2013-04

Variant appearance in text: NPHS1: Thr294Ile; rs113825926
PubMed Link: 23349334
Variant Present in the following documents:
  • Main text
View BVdb publication page