BHMT2 c.451-222A>T

Variant ID: 5-78378410-A-T

NM_017614.4(BHMT2):c.451-222A>T

This variant was identified in 7 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: rs526264
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



Innovative approach to identify multigenomic and environmental interactions associated with birth defects in family-based hybrid designs.

Genetic Epidemiology
Lou, Xiang-Yang XY; Hou, Ting-Ting TT; Liu, Shou-Ye SY; Xu, Hai-Ming HM; Lin, Feng F; Tang, Xinyu X; MacLeod, Stewart L SL; Cleves, Mario A MA; Hobbs, Charlotte A CA
Publication Date: 2021-03

Variant appearance in text: rs526264
PubMed Link: 32996630
Variant Present in the following documents:
  • Main text
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: BHMT2: 451-222A>T; rs526264
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_7.xlsx, sheet 1
View BVdb publication page



Sequence variation in folate pathway genes and risks of human cleft lip with or without cleft palate.

American Journal Of Medical Genetics. Part A
Marini, Nicholas J NJ; Yang, Wei W; Asrani, Kripa K; Witte, John S JS; Rine, Jasper J; Lammer, Edward J EJ; Shaw, Gary M GM
Publication Date: 2016-11

Variant appearance in text: rs526264
PubMed Link: 27604992
Variant Present in the following documents:
  • Main text
View BVdb publication page



Obstructive heart defects associated with candidate genes, maternal obesity, and folic acid supplementation.

American Journal Of Medical Genetics. Part A
Tang, Xinyu X; Cleves, Mario A MA; Nick, Todd G TG; Li, Ming M; MacLeod, Stewart L SL; Erickson, Stephen W SW; Li, Jingyun J; Shaw, Gary M GM; Mosley, Bridget S BS; Hobbs, Charlotte A CA; ,
Publication Date: 2015-06

Variant appearance in text: rs526264
PubMed Link: 25846410
Variant Present in the following documents:
  • Main text
View BVdb publication page



A genetic signature of spina bifida risk from pathway-informed comprehensive gene-variant analysis.

Plos One
Marini, Nicholas J NJ; Hoffmann, Thomas J TJ; Lammer, Edward J EJ; Hardin, Jill J; Lazaruk, Katherine K; Stein, Jason B JB; Gilbert, Dennis A DA; Wright, Crystal C; Lipzen, Anna A; Pennacchio, Len A LA; Carmichael, Suzan L SL; Witte, John S JS; Shaw, Gary M GM; Rine, Jasper J
Publication Date: 2011

Variant appearance in text: rs526264
PubMed Link: 22140583
Variant Present in the following documents:
  • pone.0028408.s004.xls, sheet 1
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Polymorphic variants of genes involved in homocysteine metabolism in celiac disease.

Molecular Biology Reports
Hozyasz, Kamil K KK; Mostowska, Adrianna A; Szaflarska-Poplawska, Anna A; Lianeri, Margarita M; Jagodzinski, Pawel P PP
Publication Date: 2012-03

Variant appearance in text: rs526264
PubMed Link: 21688148
Variant Present in the following documents:
  • Main text
  • 11033_2011_Article_1077.pdf
View BVdb publication page