CSMD1 c.6609-58A>G

Variant ID: 8-2966328-T-C

NM_033225.5(CSMD1):c.6609-58A>G

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Novel germline TRAF3IP3 mutation in a dyad with familial acute B lymphoblastic leukemia.

Cancer Reports (Hoboken, N.J.)
Pommert, Lauren L; Burns, Robert R; Furumo, Quinlan Q; Pulakanti, Kirthi K; Brandt, Jon J; Burke, Michael J MJ; Rao, Sridhar S
Publication Date: 2021-06

Variant appearance in text: CSMD1: 6609-58A>G; rs3802292
PubMed Link: 33503336
Variant Present in the following documents:
  • CNR2-4-e1335-s003.xlsx, sheet 2
  • CNR2-4-e1335-s003.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: CSMD1: 6609-58A>G; rs3802292
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_6.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: rs3802292
PubMed Link: 28690861
Variant Present in the following documents:
  • hgv201727-s1.xls, sheet 1
View BVdb publication page



Joint identification of genetic variants for physical activity in Korean population.

International Journal Of Molecular Sciences
Kim, Jayoun J; Kim, Jaehee J; Min, Haesook H; Oh, Sohee S; Kim, Yeonjung Y; Lee, Andy H AH; Park, Taesung T
Publication Date: 2014-07-14

Variant appearance in text: rs3802292
PubMed Link: 25026172
Variant Present in the following documents:
  • Main text
  • ijms-15-12407.pdf
View BVdb publication page