Variant ID: 12-121419056-T-C

NM_000545.5(HNF1A):c.326+2159T>C

This variant was identified in 9 publications




Publications:


Novel insights into genetics and clinics of the HNF1A-MODY.

Endocrine Regulations
T Valkovicova, M Skopkova, J Stanik, D Gasperikova
Publication Date: 2019-04-01

Variant appearance in text: HNF1A: 326+2159T>C; rs1169286
PubMed Link: 31517624
Variant Present in the following documents:
  • Supplemental file
View BVdb publication page



Improved Progression-Free Survival in Irinotecan-Treated Metastatic Colorectal Cancer Patients Carrying the HNF1A Coding Variant p.I27L.

Frontiers In Pharmacology
A Labriet, E De Mattia, E Cecchin, É Lévesque, D Jonker, F Couture, A Buonadonna, M D'Andrea, L Villeneuve, G Toffoli, C Guillemette
Publication Date: 2017

Variant appearance in text: rs1169286
PubMed Link: 29066969
Variant Present in the following documents:
  • Table_1.pdf
  • Main text
View BVdb publication page



Variation in Maturity-Onset Diabetes of the Young Genes Influence Response to Interventions for Diabetes Prevention.

The Journal Of Clinical Endocrinology And Metabolism
LK Billings, KA Jablonski, AS Warner, YC Cheng, JB McAteer, L Tipton, AR Shuldiner, DA Ehrmann, AK Manning, D Dabelea, PW Franks, SE Kahn, TI Pollin, WC Knowler, D Altshuler, JC Florez,
Publication Date: 2017-08-01

Variant appearance in text: rs1169286
PubMed Link: 28453780
Variant Present in the following documents:
  • jc.2016-3429.st1.xlsx
View BVdb publication page



Low LDL cholesterol, PCSK9 and HMGCR genetic variation, and risk of Alzheimer's disease and Parkinson's disease: Mendelian randomisation study.

Bmj (Clinical Research Ed.)
M Benn, BG Nordestgaard, R Frikke-Schmidt, A Tybjærg-Hansen
Publication Date: 2017-04-24

Variant appearance in text: rs1169286
PubMed Link: 28438747
Variant Present in the following documents:
  • benm033277.ww1.pdf
View BVdb publication page



Are C-reactive protein associated genetic variants associated with serum levels and retinal markers of microvascular pathology in Asian populations from Singapore?

Plos One
R Dorajoo, R Li, MK Ikram, J Liu, P Froguel, J Lee, X Sim, RT Ong, WT Tay, C Peng, TL Young, AI Blakemore, CY Cheng, T Aung, P Mitchell, JJ Wang, CC Klaver, E Boerwinkle, R Klein, DS Siscovick, RA Jensen, V Gudnason, AV Smith, YY Teo, TY Wong, ES Tai, CK Heng, Y Friedlander
Publication Date: 2013

Variant appearance in text: rs1169286
PubMed Link: 23844046
Variant Present in the following documents:
  • pone.0067650.s001.doc
View BVdb publication page



Genome-wide association with C-reactive protein levels in CLHNS: evidence for the CRP and HNF1A loci and their interaction with exposure to a pathogenic environment.

Inflammation
Y Wu, TW McDade, CW Kuzawa, J Borja, Y Li, LS Adair, KL Mohlke, LA Lange
Publication Date: 2012-04

Variant appearance in text: rs1169286
PubMed Link: 21647738
Variant Present in the following documents:
  • Main text
  • NIHMS303896-supplement-Supplementary_Table_1-6.doc
View BVdb publication page



Association of coagulation-related and inflammation-related genes and factor VIIc levels with stroke: the Cardiovascular Health Study.

Journal Of Thrombosis And Haemostasis : Jth
NA Zakai, L Lange, WT Longstreth, ES O'Meara, JL Kelley, M Fornage, D Nikerson, M Cushman, AP Reiner
Publication Date: 2011-02

Variant appearance in text: rs1169286
PubMed Link: 21114618
Variant Present in the following documents:
  • NIHMS253450-supplement-Table_S1.doc
View BVdb publication page



Inflammation and stress-related candidate genes, plasma interleukin-6 levels, and longevity in older adults.

Experimental Gerontology
JD Walston, AM Matteini, C Nievergelt, LA Lange, DM Fallin, N Barzilai, E Ziv, L Pawlikowska, P Kwok, SR Cummings, C Kooperberg, A LaCroix, RP Tracy, G Atzmon, EM Lange, AP Reiner
Publication Date: 2009-05

Variant appearance in text: rs1169286
PubMed Link: 19249341
Variant Present in the following documents:
  • NIHMS98994-supplement-3.pdf
  • NIHMS98994-supplement-2.pdf
View BVdb publication page



Polymorphisms of the HNF1A gene encoding hepatocyte nuclear factor-1 alpha are associated with C-reactive protein.

American Journal Of Human Genetics
AP Reiner, MJ Barber, Y Guan, PM Ridker, LA Lange, DI Chasman, JD Walston, GM Cooper, NS Jenny, MJ Rieder, JP Durda, JD Smith, J Novembre, RP Tracy, JI Rotter, M Stephens, DA Nickerson, RM Krauss
Publication Date: 2008-05

Variant appearance in text: rs1169286
PubMed Link: 18439552
Variant Present in the following documents:
  • Main text
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000544413.1 c.326+2159T>C - intron_variant - 1/9
ENST00000257555.6 c.326+2159T>C - intron_variant - 1/9
ENST00000400024.2 c.326+2159T>C - intron_variant - 1/6
ENST00000402929.1 c.326+2159T>C - intron_variant - 1/5
ENST00000535955.1 c.42+2561T>C - intron_variant - 1/1
ENST00000538626.1 c.72+2413T>C - intron_variant - 1/1
ENST00000538646.1 c.326+2159T>C - intron_variant,NMD_transcript_variant - 1/5
ENST00000540108.1 c.326+2159T>C - intron_variant,NMD_transcript_variant - 1/8
ENST00000541395.1 c.326+2159T>C - intron_variant - 1/8
ENST00000541924.1 c.326+2159T>C - intron_variant,NMD_transcript_variant - 1/5
ENST00000543427.1 c.-26+2159T>C - intron_variant - 2/6
ENST00000544574.1 c.72+2413T>C - intron_variant,NMD_transcript_variant - 1/2
ENST00000560968.1 c.469+2159T>C - intron_variant,NMD_transcript_variant - 1/9
NM_000545.6 c.326+2159T>C - intron_variant - 1/9
NM_001306179.2 c.326+2159T>C - intron_variant - 1/9