CD4 c.415C>T ;(p.L139=)

Variant ID: 12-6923966-C-T

NM_000616.4(CD4):c.415C>T;(p.L139=)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Four diseases, PLAID, APLAID, FCAS3 and CVID and one gene (PHOSPHOLIPASE C, GAMMA-2; PLCG2): Striking clinical phenotypic overlap and difference.

Clinical Case Reports
Kutukculer, Necil N; Topyildiz, Ezgi E; Berdeli, Afig A; Guven Bilgin, Burcu B; Aykut, Ayca A; Durmaz, Asude A; Cogulu, Ozgur O; Aksu, Guzide G; Edeer Karaca, Neslihan N
Publication Date: 2021-04

Variant appearance in text: CD4: 415C>T
PubMed Link: 33936634
Variant Present in the following documents:
  • Main text
View BVdb publication page



Integrated molecular drivers coordinate biological and clinical states in melanoma.

Nature Genetics
Conway, Jake R JR; Dietlein, Felix F; Taylor-Weiner, Amaro A; AlDubayan, Saud S; Vokes, Natalie N; Keenan, Tanya T; Reardon, Brendan B; He, Meng Xiao MX; Margolis, Claire A CA; Weirather, Jason L JL; Haq, Rizwan R; Schilling, Bastian B; Stephen Hodi, F F; Schadendorf, Dirk D; Liu, David D; Van Allen, Eliezer M EM
Publication Date: 2020-12

Variant appearance in text: CD4: 415C>T
PubMed Link: 33230298
Variant Present in the following documents:
  • NIHMS1637640-supplement-SuppData1.xlsx, sheet 1
View BVdb publication page



Isolation, Sequence, Infectivity, and Replication Kinetics of Severe Acute Respiratory Syndrome Coronavirus 2.

Emerging Infectious Diseases
Banerjee, Arinjay A; Nasir, Jalees A JA; Budylowski, Patrick P; Yip, Lily L; Aftanas, Patryk P; Christie, Natasha N; Ghalami, Ayoob A; Baid, Kaushal K; Raphenya, Amogelang R AR; Hirota, Jeremy A JA; Miller, Matthew S MS; McGeer, Allison J AJ; Ostrowski, Mario M; Kozak, Robert A RA; McArthur, Andrew G AG; Mossman, Karen K; Mubareka, Samira S
Publication Date: 2020-09

Variant appearance in text: CD4: L139L
PubMed Link: 32558639
Variant Present in the following documents:
  • Main text
View BVdb publication page