HFE c.76+112T>A

Variant ID: 6-26087856-T-A

NM_000410.3(HFE):c.76+112T>A

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem
Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS
Publication Date: 2022-11

Variant appearance in text: rs2858993
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



Novel germline TRAF3IP3 mutation in a dyad with familial acute B lymphoblastic leukemia.

Cancer Reports (Hoboken, N.J.)
Pommert, Lauren L; Burns, Robert R; Furumo, Quinlan Q; Pulakanti, Kirthi K; Brandt, Jon J; Burke, Michael J MJ; Rao, Sridhar S
Publication Date: 2021-06

Variant appearance in text: HFE: 76+112T>A; rs2858993
PubMed Link: 33503336
Variant Present in the following documents:
  • CNR2-4-e1335-s003.xlsx, sheet 2
View BVdb publication page



Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology
Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P
Publication Date: 2018

Variant appearance in text: HFE: 76+112T>A; rs2858993
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_7.xlsx, sheet 1
  • Table_6.xlsx, sheet 1
View BVdb publication page



ALS and CHARGE syndrome: a clinical and genetic study.

Acta Neurologica Belgica
Ungaro, Carmine C; Citrigno, Luigi L; Trojsi, Francesca F; Sprovieri, Teresa T; Gentile, Giulia G; Muglia, Maria M; Monsurrò, Maria Rosaria MR; Tedeschi, Gioacchino G; Cavallaro, Sebastiano S; Conforti, Francesca Luisa FL
Publication Date: 2018-12

Variant appearance in text: rs2858993
PubMed Link: 30317490
Variant Present in the following documents:
  • 13760_2018_1029_MOESM3_ESM.pdf
View BVdb publication page



Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation
Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H
Publication Date: 2017

Variant appearance in text: rs2858993
PubMed Link: 28690861
Variant Present in the following documents:
  • hgv201727-s1.xls, sheet 1
View BVdb publication page



Analysis of single nucleotide variants of HFE gene and association to survival in The Cancer Genome Atlas GBM data.

Plos One
Lee, Sang Y SY; Zhu, Junjia J; Salzberg, Anna C AC; Zhang, Bo B; Liu, Dajiang J DJ; Muscat, Joshua E JE; Langan, Sara T ST; Connor, James R JR
Publication Date: 2017

Variant appearance in text: rs2858993
PubMed Link: 28358914
Variant Present in the following documents:
  • Main text
  • pone.0174778.pdf
View BVdb publication page