SHMT1 c.-20+2729C>G

Variant ID: 17-18263957-G-C

NM_004169.5(SHMT1):c.-20+2729C>G

This variant was identified in 6 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: rs669340
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



Maternal and infant genetic variants, maternal periconceptional use of selective serotonin reuptake inhibitors, and risk of congenital heart defects in offspring: population based study.

Bmj (Clinical Research Ed.)
Nembhard, Wendy N WN; Tang, Xinyu X; Hu, Zhuopei Z; MacLeod, Stewart S; Stowe, Zachary Z; Webber, Daniel D; ,
Publication Date: 2017-03-06

Variant appearance in text: rs669340
PubMed Link: 28264803
Variant Present in the following documents:
  • Main text
View BVdb publication page



Consortium analysis of gene and gene-folate interactions in purine and pyrimidine metabolism pathways with ovarian carcinoma risk.

Molecular Nutrition & Food Research
Kelemen, Linda E LE; Terry, Kathryn L KL; Goodman, Marc T MT; Webb, Penelope M PM; Bandera, Elisa V EV; McGuire, Valerie V; Rossing, Mary Anne MA; Wang, Qinggang Q; Dicks, Ed E; Tyrer, Jonathan P JP; Song, Honglin H; Kupryjanczyk, Jolanta J; Dansonka-Mieszkowska, Agnieszka A; Plisiecka-Halasa, Joanna J; Timorek, Agnieszka A; Menon, Usha U; Gentry-Maharaj, Aleksandra A; Gayther, Simon A SA; Ramus, Susan J SJ; Narod, Steven A SA; Risch, Harvey A HA; McLaughlin, John R JR; Siddiqui, Nadeem N; Glasspool, Rosalind R; Paul, James J; Carty, Karen K; Gronwald, Jacek J; Lubiński, Jan J; Jakubowska, Anna A; Cybulski, Cezary C; Kiemeney, Lambertus A LA; Massuger, Leon F A G LF; van Altena, Anne M AM; Aben, Katja K H KK; Olson, Sara H SH; Orlow, Irene I; Cramer, Daniel W DW; Levine, Douglas A DA; Bisogna, Maria M; Giles, Graham G GG; Southey, Melissa C MC; Bruinsma, Fiona F; Kjaer, Susanne K SK; Høgdall, Estrid E; Jensen, Allan A; Høgdall, Claus K CK; Lundvall, Lene L; Engelholm, Svend-Aage SA; Heitz, Florian F; du Bois, Andreas A; Harter, Philipp P; Schwaab, Ira I; Butzow, Ralf R; Nevanlinna, Heli H; Pelttari, Liisa M LM; Leminen, Arto A; Thompson, Pamela J PJ; Lurie, Galina G; Wilkens, Lynne R LR; Lambrechts, Diether D; Van Nieuwenhuysen, Els E; Lambrechts, Sandrina S; Vergote, Ignace I; Beesley, Jonathan J; , ; Fasching, Peter A PA; Beckmann, Matthias W MW; Hein, Alexander A; Ekici, Arif B AB; Doherty, Jennifer A JA; Wu, Anna H AH; Pearce, Celeste L CL; Pike, Malcolm C MC; Stram, Daniel D; Chang-Claude, Jenny J; Rudolph, Anja A; Dörk, Thilo T; Dürst, Matthias M; Hillemanns, Peter P; Runnebaum, Ingo B IB; Bogdanova, Natalia N; Antonenkova, Natalia N; Odunsi, Kunle K; Edwards, Robert P RP; Kelley, Joseph L JL; Modugno, Francesmary F; Ness, Roberta B RB; Karlan, Beth Y BY; Walsh, Christine C; Lester, Jenny J; Orsulic, Sandra S; Fridley, Brooke L BL; Vierkant, Robert A RA; Cunningham, Julie M JM; Wu, Xifeng X; Lu, Karen K; Liang, Dong D; Hildebrandt, Michelle A T MA; Weber, Rachel Palmieri RP; Iversen, Edwin S ES; Tworoger, Shelley S SS; Poole, Elizabeth M EM; Salvesen, Helga B HB; Krakstad, Camilla C; Bjorge, Line L; Tangen, Ingvild L IL; Pejovic, Tanja T; Bean, Yukie Y; Kellar, Melissa M; Wentzensen, Nicolas N; Brinton, Louise A LA; Lissowska, Jolanta J; Garcia-Closas, Montserrat M; Campbell, Ian G IG; Eccles, Diana D; Whittemore, Alice S AS; Sieh, Weiva W; Rothstein, Joseph H JH; Anton-Culver, Hoda H; Ziogas, Argyrios A; Phelan, Catherine M CM; Moysich, Kirsten B KB; Goode, Ellen L EL; Schildkraut, Joellen M JM; Berchuck, Andrew A; Pharoah, Paul D P PD; Sellers, Thomas A TA; Brooks-Wilson, Angela A; Cook, Linda S LS; Le, Nhu D ND
Publication Date: 2014-10

Variant appearance in text: rs669340
PubMed Link: 25066213
Variant Present in the following documents:
  • Main text
View BVdb publication page



Maternal and infant gene-folate interactions and the risk of neural tube defects.

American Journal Of Medical Genetics. Part A
Etheredge, Analee J AJ; Finnell, Richard H RH; Carmichael, Suzan L SL; Lammer, Edward J EJ; Zhu, Huiping H; Mitchell, Laura E LE; Shaw, Gary M GM
Publication Date: 2012-10

Variant appearance in text: rs669340
PubMed Link: 22903727
Variant Present in the following documents:
  • Main text
View BVdb publication page



Gene variants in the folate-mediated one-carbon metabolism (FOCM) pathway as risk factors for conotruncal heart defects.

American Journal Of Medical Genetics. Part A
Zhu, Huiping H; Yang, Wei W; Lu, Wei W; Etheredge, Analee J AJ; Lammer, Edward J EJ; Finnell, Richard H RH; Carmichael, Suzan L SL; Shaw, Gary M GM
Publication Date: 2012-05

Variant appearance in text: rs669340
PubMed Link: 22495907
Variant Present in the following documents:
  • Main text
View BVdb publication page



Serine hydroxymethyltransferase 1 and 2: gene sequence variation and functional genomic characterization.

Journal Of Neurochemistry
Hebbring, Scott J SJ; Chai, Yubo Y; Ji, Yuan Y; Abo, Ryan P RP; Jenkins, Gregory D GD; Fridley, Brooke B; Zhang, Jianping J; Eckloff, Bruce W BW; Wieben, Eric D ED; Weinshilboum, Richard M RM
Publication Date: 2012-03

Variant appearance in text: rs669340
PubMed Link: 22220685
Variant Present in the following documents:
  • Main text
View BVdb publication page