ST20-MTHFS c.*1423T>C

Variant ID: 15-80136129-A-G

NM_001199760.1(ST20-MTHFS):c.*1423T>C

This variant was identified in 4 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: rs685487
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



Non-syndromic Cleft Palate: An Overview on Human Genetic and Environmental Risk Factors.

Frontiers In Cell And Developmental Biology
Martinelli, Marcella M; Palmieri, Annalisa A; Carinci, Francesco F; Scapoli, Luca L
Publication Date: 2020

Variant appearance in text: rs685487
PubMed Link: 33195260
Variant Present in the following documents:
  • Main text
  • fcell-08-592271.pdf
View BVdb publication page



Proteogenomic analysis prioritises functional single nucleotide variants in cancer samples.

Oncotarget
Ma, Shiyong S; Menon, Ranjeeta R; Poulos, Rebecca C RC; Wong, Jason W H JWH
Publication Date: 2017-11-10

Variant appearance in text: rs685487
PubMed Link: 29221171
Variant Present in the following documents:
  • oncotarget-08-95841-s002.xlsx, sheet 4
View BVdb publication page



A genetic association study detects haplotypes associated with obstructive heart defects.

Human Genetics
Li, Ming M; Cleves, Mario A MA; Mallick, Himel H; Erickson, Stephen W SW; Tang, Xinyu X; Nick, Todd G TG; Macleod, Stewart L SL; Hobbs, Charlotte A CA; ,
Publication Date: 2014-09

Variant appearance in text: rs685487
PubMed Link: 24894164
Variant Present in the following documents:
  • Main text
View BVdb publication page