SLC25A44 c.-13-16A>G

Variant ID: 1-156169610-A-G

NM_014655.2(SLC25A44):c.-13-16A>G

This variant was identified in 13 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: rs2072499
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports
Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA
Publication Date: 2019-10-09

Variant appearance in text: rs2072499
PubMed Link: 31597922
Variant Present in the following documents:
  • 41598_2019_50891_MOESM4_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM5_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM9_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM8_ESM.xlsx, sheet 1
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Allele-Specific Transcript Abundance: A Pilot Study in Healthy Centenarians.

The Journals Of Gerontology. Series A, Biological Sciences And Medical Sciences
Tindale, Lauren C LC; Thiessen, Nina N; Leach, Stephen S; Brooks-Wilson, Angela R AR
Publication Date: 2020-05-22

Variant appearance in text: rs2072499
PubMed Link: 31504207
Variant Present in the following documents:
  • Main text
  • glz188.pdf
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: SLC25A44: -13-16A>G; rs2072499
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_7.xlsx, sheet 1
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: rs2072499
PubMed Link: 28690861
Variant Present in the following documents:
  • hgv201727-s1.xls, sheet 1
View BVdb publication page



Meta-analysis of five genome-wide association studies identifies multiple new loci associated with testicular germ cell tumor.

Nature Genetics
Wang, Zhaoming Z; McGlynn, Katherine A KA; Rajpert-De Meyts, Ewa E; Bishop, D Timothy DT; Chung, Charles C CC; Dalgaard, Marlene D MD; Greene, Mark H MH; Gupta, Ramneek R; Grotmol, Tom T; Haugen, Trine B TB; Karlsson, Robert R; Litchfield, Kevin K; Mitra, Nandita N; Nielsen, Kasper K; Pyle, Louise C LC; Schwartz, Stephen M SM; Thorsson, Vésteinn V; Vardhanabhuti, Saran S; Wiklund, Fredrik F; Turnbull, Clare C; Chanock, Stephen J SJ; Kanetsky, Peter A PA; Nathanson, Katherine L KL; ,
Publication Date: 2017-07

Variant appearance in text: rs2072499
PubMed Link: 28604732
Variant Present in the following documents:
  • Main text
View BVdb publication page



Identification of 19 new risk loci and potential regulatory mechanisms influencing susceptibility to testicular germ cell tumor.

Nature Genetics
Litchfield, Kevin K; Levy, Max M; Orlando, Giulia G; Loveday, Chey C; Law, Philip J PJ; Migliorini, Gabriele G; Holroyd, Amy A; Broderick, Peter P; Karlsson, Robert R; Haugen, Trine B TB; Kristiansen, Wenche W; Nsengimana, Jérémie J; Fenwick, Kerry K; Assiotis, Ioannis I; Kote-Jarai, ZSofia Z; Dunning, Alison M AM; Muir, Kenneth K; Peto, Julian J; Eeles, Rosalind R; Easton, Douglas F DF; Dudakia, Darshna D; Orr, Nick N; Pashayan, Nora N; , ; , ; Bishop, D Timothy DT; Reid, Alison A; Huddart, Robert A RA; Shipley, Janet J; Grotmol, Tom T; Wiklund, Fredrik F; Houlston, Richard S RS; Turnbull, Clare C
Publication Date: 2017-07

Variant appearance in text: rs2072499
PubMed Link: 28604728
Variant Present in the following documents:
  • Main text
View BVdb publication page



Variants in BAK1, SPRY4, and GAB2 are associated with pediatric germ cell tumors: A report from the children's oncology group.

Genes, Chromosomes & Cancer
Marcotte, Erin L EL; Pankratz, Nathan N; Amatruda, James F JF; Frazier, A Lindsay AL; Krailo, Mark M; Davies, Stella S; Starr, Jacqueline R JR; Lau, Ching C CC; Roesler, Michelle M; Langer, Erica E; Hallstrom, Caroline C; Hooten, Anthony J AJ; Poynter, Jenny N JN
Publication Date: 2017-07

Variant appearance in text: rs2072499
PubMed Link: 28295819
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic changes associated with testicular cancer susceptibility.

Seminars In Oncology
Pyle, Louise C LC; Nathanson, Katherine L KL
Publication Date: 2016-10

Variant appearance in text: rs2072499
PubMed Link: 27899190
Variant Present in the following documents:
  • Main text
View BVdb publication page



Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.

Stem Cell Reports
Garate, Zita Z; Quintana-Bustamante, Oscar O; Crane, Ana M AM; Olivier, Emmanuel E; Poirot, Laurent L; Galetto, Roman R; Kosinski, Penelope P; Hill, Collin C; Kung, Charles C; Agirre, Xabi X; Orman, Israel I; Cerrato, Laura L; Alberquilla, Omaira O; Rodriguez-Fornes, Fatima F; Fusaki, Noemi N; Garcia-Sanchez, Felix F; Maia, Tabita M TM; Ribeiro, Maria L ML; Sevilla, Julian J; Prosper, Felipe F; Jin, Shengfang S; Mountford, Joanne J; Guenechea, Guillermo G; Gouble, Agnes A; Bueren, Juan A JA; Davis, Brian R BR; Segovia, Jose C JC
Publication Date: 2015-12-08

Variant appearance in text: rs2072499
PubMed Link: 26549847
Variant Present in the following documents:
  • mmc3.xlsx, sheet 2
  • mmc3.xlsx, sheet 1
  • mmc3.xlsx, sheet 3
View BVdb publication page



Quantifying the heritability of testicular germ cell tumour using both population-based and genomic approaches.

Scientific Reports
Litchfield, Kevin K; Thomsen, Hauke H; Mitchell, Jonathan S JS; Sundquist, Jan J; Houlston, Richard S RS; Hemminki, Kari K; Turnbull, Clare C
Publication Date: 2015-09-09

Variant appearance in text: rs2072499
PubMed Link: 26349679
Variant Present in the following documents:
  • Main text
  • srep13889.pdf
View BVdb publication page



Identification of nine new susceptibility loci for testicular cancer, including variants near DAZL and PRDM14.

Nature Genetics
Ruark, Elise E; Seal, Sheila S; McDonald, Heather H; Zhang, Feng F; Elliot, Anna A; Lau, Kingwai K; Perdeaux, Elizabeth E; Rapley, Elizabeth E; Eeles, Rosalind R; Peto, Julian J; Kote-Jarai, Zsofia Z; Muir, Kenneth K; Nsengimana, Jeremie J; Shipley, Janet J; , ; Bishop, D Timothy DT; Stratton, Michael R MR; Easton, Douglas F DF; Huddart, Robert A RA; Rahman, Nazneen N; Turnbull, Clare C
Publication Date: 2013-06

Variant appearance in text: rs2072499
PubMed Link: 23666240
Variant Present in the following documents:
  • Main text
  • emss-53129.pdf
View BVdb publication page



Comprehensive SNP-chip for retinitis pigmentosa-Leber congenital amaurosis diagnosis: new mutations and detection of mutational founder effects.

European Journal Of Human Genetics : Ejhg
Pomares, Esther E; Riera, Marina M; Permanyer, Jon J; Méndez, Pilar P; Castro-Navarro, Joaquín J; Andrés-Gutiérrez, Angeles A; Marfany, Gemma G; Gonzàlez-Duarte, Roser R
Publication Date: 2010-01

Variant appearance in text: rs2072499
PubMed Link: 19584904
Variant Present in the following documents:
  • Main text
View BVdb publication page