TBCD c.1148+244T>C

Variant ID: 17-80765788-T-C

NM_005993.4(TBCD):c.1148+244T>C

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Use of amplicon-based sequencing for testing fetal identity and monogenic traits with Single Circulating Trophoblast (SCT) as one form of cell-based NIPT.

Plos One
Zhuo, Xinming X; Wang, Qun Q; Vossaert, Liesbeth L; Salman, Roseen R; Kim, Adriel A; Van den Veyver, Ignatia I; Breman, Amy A; Beaudet, Arthur A
Publication Date: 2021

Variant appearance in text: rs2292972
PubMed Link: 33857205
Variant Present in the following documents:
  • Main text
  • pone.0249695.pdf
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: TBCD: 1148+244T>C; rs2292972
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_6.xlsx, sheet 1
  • Table_5.xlsx, sheet 1
View BVdb publication page



Simultaneous genomic identification and profiling of a single cell using semiconductor-based next generation sequencing.

Applied & Translational Genomics
Watanabe, Manabu M; Kusano, Junko J; Ohtaki, Shinsaku S; Ishikura, Takashi T; Katayama, Jin J; Koguchi, Akira A; Paumen, Michael M; Hayashi, Yoshiharu Y
Publication Date: 2014-09-01

Variant appearance in text: rs2292972
PubMed Link: 27294018
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Parallel Analysis of 124 Universal SNPs for Human Identification by Targeted Semiconductor Sequencing.

Scientific Reports
Zhang, Suhua S; Bian, Yingnan Y; Zhang, Zheren Z; Zheng, Hancheng H; Wang, Zheng Z; Zha, Lagabaiyila L; Cai, Jifeng J; Gao, Yuzhen Y; Ji, Chaoneng C; Hou, Yiping Y; Li, Chengtao C
Publication Date: 2015-12-22

Variant appearance in text: rs2292972
PubMed Link: 26691610
Variant Present in the following documents:
  • Main text
  • srep18683.pdf
View BVdb publication page



Bone marrow chimerism detection using next generation sequencing based on single nucleotide polymorphisms following liver transplantation: comparison with short tandem repeat-PCR.

Annals Of Laboratory Medicine
Kim, Jieun J; Hwang, In Sik IS; Kim, Hyon Suk HS; Joo, Dong Jin DJ; Hong, Kyung Ran KR; Choi, Jong Rak JR
Publication Date: 2016-01

Variant appearance in text: rs2292972
PubMed Link: 26522768
Variant Present in the following documents:
  • Main text
  • alm-36-82.pdf
View BVdb publication page