SI c.4631G>A ;(p.R1544H)

Variant ID: 3-164714384-C-T

NM_001041.3(SI):c.4631G>A;(p.R1544H)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics
Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,
Publication Date: 2022-12-01

Variant appearance in text: SI: R1544H; rs1340078396
PubMed Link: 36413997
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



The Genetic Landscape of Ocular Adnexa MALT Lymphoma Reveals Frequent Aberrations in NFAT and MEF2B Signaling Pathways.

Cancer Research Communications
Magistri, Marco M; Happ, Lanie E LE; Ramdial, Jeremy J; Lu, XiaoQing X; Stathias, Vasileios V; Kunkalla, Kranthi K; Agarwal, Nitin N; Jiang, Xiaoyu X; Schürer, Stephan C SC; Dubovy, Sander R SR; Chapman, Jennifer R JR; Vega, Francisco F; Dave, Sandeep S; Lossos, Izidore S IS
Publication Date: 2021-10

Variant appearance in text: SI: R1544H
PubMed Link: 35528192
Variant Present in the following documents:
  • crc-21-0022-s03.xlsx, sheet 1
View BVdb publication page



Heterozygotes Are a Potential New Entity among Homozygotes and Compound Heterozygotes in Congenital Sucrase-Isomaltase Deficiency.

Nutrients
Husein, Diab M DM; Wanes, Dalanda D; Marten, Lara M LM; Zimmer, Klaus-Peter KP; Naim, Hassan Y HY
Publication Date: 2019-09-25

Variant appearance in text: rs1340078396
PubMed Link: 31557950
Variant Present in the following documents:
  • Main text
  • nutrients-11-02290.pdf
View BVdb publication page



The impact of tumor profiling approaches and genomic data strategies for cancer precision medicine.

Genome Medicine
Garofalo, Andrea A; Sholl, Lynette L; Reardon, Brendan B; Taylor-Weiner, Amaro A; Amin-Mansour, Ali A; Miao, Diana D; Liu, David D; Oliver, Nelly N; MacConaill, Laura L; Ducar, Matthew M; Rojas-Rudilla, Vanesa V; Giannakis, Marios M; Ghazani, Arezou A; Gray, Stacy S; Janne, Pasi P; Garber, Judy J; Joffe, Steve S; Lindeman, Neal N; Wagle, Nikhil N; Garraway, Levi A LA; Van Allen, Eliezer M EM
Publication Date: 2016-07-26

Variant appearance in text: SI: 4631G>A; R1544H
PubMed Link: 27460824
Variant Present in the following documents:
  • 13073_2016_333_MOESM4_ESM.xlsx, sheet 1
  • 13073_2016_333_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page