NID1 c.2254+579T>C

Variant ID: 1-236179869-A-G

NM_002508.2(NID1):c.2254+579T>C

This variant was identified in 11 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: rs3768080
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



Association of Melanoma-Risk Variants with Primary Melanoma Tumor Prognostic Characteristics and Melanoma-Specific Survival in the GEM Study.

Current Oncology (Toronto, Ont.)
Davari, Danielle R DR; Orlow, Irene I; Kanetsky, Peter A PA; Luo, Li L; Busam, Klaus J KJ; Sharma, Ajay A; Kricker, Anne A; Cust, Anne E AE; Anton-Culver, Hoda H; Gruber, Stephen B SB; Gallagher, Richard P RP; Zanetti, Roberto R; Rosso, Stefano S; Sacchetto, Lidia L; Dwyer, Terence T; Gibbs, David C DC; Ollila, David W DW; Begg, Colin B CB; Berwick, Marianne M; Thomas, Nancy E NE
Publication Date: 2021-11-16

Variant appearance in text: rs3768080
PubMed Link: 34898573
Variant Present in the following documents:
  • Main text
  • curroncol-28-00401.pdf
View BVdb publication page



Association of Melanoma-Risk Variants with Primary Melanoma Tumor Prognostic Characteristics and Melanoma-Specific Survival in the GEM Study.

Current Oncology (Toronto, Ont.)
Davari, Danielle R DR; Orlow, Irene I; Kanetsky, Peter A PA; Luo, Li L; Busam, Klaus J KJ; Sharma, Ajay A; Kricker, Anne A; Cust, Anne E AE; Anton-Culver, Hoda H; Gruber, Stephen B SB; Gallagher, Richard P RP; Zanetti, Roberto R; Rosso, Stefano S; Sacchetto, Lidia L; Dwyer, Terence T; Gibbs, David C DC; Ollila, David W DW; Begg, Colin B CB; Berwick, Marianne M; Thomas, Nancy E NE
Publication Date: 2021-11-16

Variant appearance in text: rs3768080
PubMed Link: 34898573
Variant Present in the following documents:
  • Main text
  • curroncol-28-00401.pdf
View BVdb publication page



Germline variants are associated with increased primary melanoma tumor thickness at diagnosis.

Human Molecular Genetics
Mangantig, Ernest E; MacGregor, Stuart S; Iles, Mark M MM; Scolyer, Richard A RA; Cust, Anne E AE; Hayward, Nicholas K NK; Montgomery, Grant W GW; Duffy, David L DL; Thompson, John F JF; Henders, Anjali A; Bowdler, Lisa L; Rowe, Casey C; Cadby, Gemma G; Mann, Graham J GJ; Whiteman, David C DC; Long, Georgina V GV; Ward, Sarah V SV; Khosrotehrani, Kiarash K; Barrett, Jennifer H JH; Law, Matthew H MH
Publication Date: 2021-01-06

Variant appearance in text: rs3768080
PubMed Link: 33410475
Variant Present in the following documents:
  • hmg-2020-ez-00182_law_supplementary_table_clean_ddaa222.xlsx, sheet 1
View BVdb publication page



Association of Known Melanoma Risk Factors with Primary Melanoma of the Scalp and Neck.

Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology
Wood, Renee P RP; Heyworth, Jane S JS; McCarthy, Nina S NS; Mauguen, Audrey A; Berwick, Marianne M; Thomas, Nancy E NE; Millward, Michael J MJ; Anton-Culver, Hoda H; Cust, Anne E AE; Dwyer, Terence T; Gallagher, Richard P RP; Gruber, Stephen B SB; Kanetsky, Peter A PA; Orlow, Irene I; Rosso, Stefano S; Moses, Eric K EK; Begg, Colin B CB; Ward, Sarah V SV
Publication Date: 2020-11

Variant appearance in text: rs3768080
PubMed Link: 32856602
Variant Present in the following documents:
  • Main text
View BVdb publication page



Inherited Melanoma Risk Variants Associated with Histopathologically Amelanotic Melanoma.

The Journal Of Investigative Dermatology
Gibbs, David Corley DC; Orlow, Irene I; Vernali, Steven S; Powell, Helen B HB; Kanetsky, Peter A PA; Luo, Li L; Busam, Klaus J KJ; Sharma, Ajay A; Kricker, Anne A; Armstrong, Bruce K BK; Cust, Anne E AE; Anton-Culver, Hoda H; Gruber, Stephen B SB; Gallagher, Richard P RP; Zanetti, Roberto R; Rosso, Stefano S; Sacchetto, Lidia L; Dwyer, Terence T; Ollila, David W DW; Begg, Colin B CB; Berwick, Marianne M; Thomas, Nancy E NE; ,
Publication Date: 2020-04

Variant appearance in text: rs3768080
PubMed Link: 31568773
Variant Present in the following documents:
  • Main text
View BVdb publication page



Inherited Genetic Variants Associated with Melanoma BRAF/NRAS Subtypes.

The Journal Of Investigative Dermatology
Thomas, Nancy E NE; Edmiston, Sharon N SN; Orlow, Irene I; Kanetsky, Peter A PA; Luo, Li L; Gibbs, David C DC; Parrish, Eloise A EA; Hao, Honglin H; Busam, Klaus J KJ; Armstrong, Bruce K BK; Kricker, Anne A; Cust, Anne E AE; Anton-Culver, Hoda H; Gruber, Stephen B SB; Gallagher, Richard P RP; Zanetti, Roberto R; Rosso, Stefano S; Sacchetto, Lidia L; Dwyer, Terence T; Ollila, David W DW; Begg, Colin B CB; Berwick, Marianne M; Conway, Kathleen K; ,
Publication Date: 2018-11

Variant appearance in text: rs3768080
PubMed Link: 29753029
Variant Present in the following documents:
  • Main text
View BVdb publication page



Functional melanoma-risk variant IRF4 rs12203592 associated with Breslow thickness: a pooled international study of primary melanomas.

The British Journal Of Dermatology
Gibbs, D C DC; Ward, S V SV; Orlow, I I; Cadby, G G; Kanetsky, P A PA; Luo, L L; Busam, K J KJ; Kricker, A A; Armstrong, B K BK; Cust, A E AE; Anton-Culver, H H; Gallagher, R P RP; Zanetti, R R; Rosso, S S; Sacchetto, L L; Ollila, D W DW; Begg, C B CB; Berwick, M M; Thomas, N E NE; ,
Publication Date: 2017-11

Variant appearance in text: rs3768080
PubMed Link: 28667740
Variant Present in the following documents:
  • Main text
View BVdb publication page



Higher Nevus Count Exhibits a Distinct DNA Methylation Signature in Healthy Human Skin: Implications for Melanoma.

The Journal Of Investigative Dermatology
Roos, Leonie L; Sandling, Johanna K JK; Bell, Christopher G CG; Glass, Daniel D; Mangino, Massimo M; Spector, Tim D TD; Deloukas, Panos P; Bataille, Veronique V; Bell, Jordana T JT
Publication Date: 2017-04

Variant appearance in text: rs3768080
PubMed Link: 27993549
Variant Present in the following documents:
  • Main text
View BVdb publication page



Epidemiological Assessments of Skin Outcomes in the Nurses' Health Studies.

American Journal Of Public Health
Li, Wen-Qing WQ; Cho, Eunyoung E; Weinstock, Martin A MA; Mashfiq, Hasan H; Qureshi, Abrar A AA
Publication Date: 2016-09

Variant appearance in text: rs3768080
PubMed Link: 27459457
Variant Present in the following documents:
  • Main text
View BVdb publication page



Inherited genetic variants associated with occurrence of multiple primary melanoma.

Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology
Gibbs, David C DC; Orlow, Irene I; Kanetsky, Peter A PA; Luo, Li L; Kricker, Anne A; Armstrong, Bruce K BK; Anton-Culver, Hoda H; Gruber, Stephen B SB; Marrett, Loraine D LD; Gallagher, Richard P RP; Zanetti, Roberto R; Rosso, Stefano S; Dwyer, Terence T; Sharma, Ajay A; La Pilla, Emily E; From, Lynn L; Busam, Klaus J KJ; Cust, Anne E AE; Ollila, David W DW; Begg, Colin B CB; Berwick, Marianne M; Thomas, Nancy E NE; ,
Publication Date: 2015-06

Variant appearance in text: rs3768080
PubMed Link: 25837821
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genome-wide association study identifies nidogen 1 (NID1) as a susceptibility locus to cutaneous nevi and melanoma risk.

Human Molecular Genetics
Nan, Hongmei H; Xu, Mousheng M; Zhang, Jiangwen J; Zhang, Mingfeng M; Kraft, Peter P; Qureshi, Abrar A AA; Chen, Constance C; Guo, Qun Q; Hu, Frank B FB; Rimm, Eric B EB; Curhan, Gary G; Song, Yiqing Y; Amos, Christopher I CI; Wang, Li-E LE; Lee, Jeffrey E JE; Wei, Qingyi Q; Hunter, David J DJ; Han, Jiali J
Publication Date: 2011-07-01

Variant appearance in text: rs3768080
PubMed Link: 21478494
Variant Present in the following documents:
  • Main text
View BVdb publication page