GATC c.255-194C>T

Variant ID: 12-120894685-C-T

NM_176818.2(GATC):c.255-194C>T

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Whole‑exome sequencing identifies a novel mutation of SLC20A2 (c.C1849T) as a possible cause of hereditary multiple exostoses in a Chinese family.

Molecular Medicine Reports
Li, Yiqiang Y; Lin, Xuemei X; Zhu, Mingwei M; Li, Jingchun J; Yuan, Zhe Z; Xu, Hongwen H
Publication Date: 2020-09

Variant appearance in text: rs7137953
PubMed Link: 32705272
Variant Present in the following documents:
  • Supplementary_Data1.xlsx, sheet 1
View BVdb publication page



Genetic and Epigenetic Studies in Diabetic Kidney Disease.

Frontiers In Genetics
Gu, Harvest F HF
Publication Date: 2019

Variant appearance in text: rs7137953
PubMed Link: 31231424
Variant Present in the following documents:
  • Main text
  • fgene-10-00507.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: GATC: 255-194C>T; rs7137953
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_5.xlsx, sheet 1
View BVdb publication page



Genetic risk factors affecting mitochondrial function are associated with kidney disease in people with Type 1 diabetes.

Diabetic Medicine : A Journal Of The British Diabetic Association
Swan, E J EJ; Salem, R M RM; Sandholm, N N; Tarnow, L L; Rossing, P P; Lajer, M M; Groop, P H PH; Maxwell, A P AP; McKnight, A J AJ; ,
Publication Date: 2015-08

Variant appearance in text: rs7137953
PubMed Link: 25819010
Variant Present in the following documents:
  • Main text
  • dme0032-1104.pdf
View BVdb publication page



Modeling the cumulative genetic risk for multiple sclerosis from genome-wide association data.

Genome Medicine
Wang, Joanne H JH; Pappas, Derek D; De Jager, Philip L PL; Pelletier, Daniel D; de Bakker, Paul Iw PI; Kappos, Ludwig L; Polman, Chris H CH; , ; Chibnik, Lori B LB; Hafler, David A DA; Matthews, Paul M PM; Hauser, Stephen L SL; Baranzini, Sergio E SE; Oksenberg, Jorge R JR
Publication Date: 2011-01-18

Variant appearance in text: rs7137953
PubMed Link: 21244703
Variant Present in the following documents:
  • Main text
  • gm217.pdf
View BVdb publication page