CCT5 c.1498+191G>C

Variant ID: 5-10263617-G-C

NM_012073.3(CCT5):c.1498+191G>C

This variant was identified in 3 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: rs2244960
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.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: rs2244960
PubMed Link: 28690861
Variant Present in the following documents:
  • hgv201727-s1.xls, sheet 1
View BVdb publication page



FAM5C contributes to aggressive periodontitis.

Plos One
Carvalho, Flavia M FM; Tinoco, Eduardo M B EM; Deeley, Kathleen K; Duarte, Poliana M PM; Faveri, Marcelo M; Marques, Marcelo R MR; Mendonça, Adriana C AC; Wang, Xiaojing X; Cuenco, Karen K; Menezes, Renato R; Garlet, Gustavo P GP; Vieira, Alexandre R AR
Publication Date: 2010-04-07

Variant appearance in text: rs2244960
PubMed Link: 20383335
Variant Present in the following documents:
  • Main text
  • pone.0010053.pdf
View BVdb publication page