HSPA9 c.716+60T>C

Variant ID: 5-137903084-A-G

NM_004134.6(HSPA9):c.716+60T>C

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Case Report: A Variant Non-ketotic Hyperglycinemia With GLRX5 Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes.

Frontiers In Genetics
Feng, Wei-Xing WX; Zhuo, Xiu-Wei XW; Liu, Zhi-Mei ZM; Li, Jiu-Wei JW; Zhang, Wei-Hua WH; Wu, Yun Y; Han, Tong-Li TL; Fang, Fang F
Publication Date: 2021

Variant appearance in text: HSPA9: 716+60T>C; rs256014
PubMed Link: 34054912
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
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: HSPA9: 716+60T>C; rs256014
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_5.xlsx, sheet 1
  • Table_7.xlsx, sheet 1
  • Table_6.xlsx, sheet 1
View BVdb publication page



Genetic correlates of longevity and selected age-related phenotypes: a genome-wide association study in the Framingham Study.

Bmc Medical Genetics
Lunetta, Kathryn L KL; D'Agostino, Ralph B RB; Karasik, David D; Benjamin, Emelia J EJ; Guo, Chao-Yu CY; Govindaraju, Raju R; Kiel, Douglas P DP; Kelly-Hayes, Margaret M; Massaro, Joseph M JM; Pencina, Michael J MJ; Seshadri, Sudha S; Murabito, Joanne M JM
Publication Date: 2007-09-19

Variant appearance in text: rs256014
PubMed Link: 17903295
Variant Present in the following documents:
  • Main text
  • 1471-2350-8-S1-S13.pdf
View BVdb publication page