BLM c.3019+184T>A

Variant ID: 15-91334258-T-A

NM_000057.2(BLM):c.3019+184T>A

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Investigating the pathogenic SNPs in BLM helicase and their biological consequences by computational approach.

Scientific Reports
Alzahrani, Faisal A FA; Ahmed, Firoz F; Sharma, Monika M; Rehan, Mohd M; Mahfuz, Maryam M; Baeshen, Mohammed N MN; Hawsawi, Yousef Y; Almatrafi, Ahmed A; Alsagaby, Suliman Abdallah SA; Kamal, Mohammad Azhar MA; Warsi, Mohiuddin Khan MK; Choudhry, Hani H; Jamal, Mohammad Sarwar MS
Publication Date: 2020-07-23

Variant appearance in text: BLM: 3019+184T>A; rs2072351
PubMed Link: 32704157
Variant Present in the following documents:
  • 41598_2020_69033_MOESM3_ESM.xlsx, sheet 1
  • 41598_2020_69033_MOESM4_ESM.xlsx, sheet 5
View BVdb publication page



Investigation of DNA repair-related SNPs underlying susceptibility to papillary thyroid carcinoma reveals MGMT as a novel candidate gene in Belarusian children exposed to radiation.

Bmc Cancer
Lonjou, Christine C; Damiola, Francesca F; Moissonnier, Monika M; Durand, Geoffroy G; Malakhova, Irina I; Masyakin, Vladimir V; Le Calvez-Kelm, Florence F; Cardis, Elisabeth E; Byrnes, Graham G; Kesminiene, Ausrele A; Lesueur, Fabienne F
Publication Date: 2017-05-12

Variant appearance in text: rs2072351
PubMed Link: 28499365
Variant Present in the following documents:
  • 12885_2017_3314_MOESM1_ESM.xls, sheet 1
View BVdb publication page