FRMD6 c.1A>G ;(p.M1?)

Variant ID: 14-52156555-A-G

NM_001267046.1(FRMD6):c.1A>G;(p.M1?)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


PIM1 genetic alterations associated with distinct molecular profiles, phenotypes and drug responses in diffuse large B-cell lymphoma.

Clinical And Translational Medicine
Zhang, Huilai H; Lu, Yaxiao Y; Zhang, Tingting T; Guan, Qingpei Q; Wang, Xiaoxuan X; Guo, Yixian Y; Li, Lanfang L; Qiu, Lihua L; Qian, Zhengzi Z; Zhou, Shiyong S; Gong, Wenchen W; Meng, Bin B; Ren, Xiubao X; Wang, Xianhuo X
Publication Date: 2022-04

Variant appearance in text: EX1: M1T
PubMed Link: 35415904
Variant Present in the following documents:
  • CTM2-12-e808-s003.xlsx, sheet 2
View BVdb publication page



Dysregulated immunity in PID patients with low GARP expression on Tregs due to mutations in LRRC32.

Cellular & Molecular Immunology
Lehmkuhl, Peter P; Gentz, Magdalena M; Garcia de Otezya, Andres Caballero AC; Grimbacher, Bodo B; Schulze-Koops, Hendrik H; Skapenko, Alla A
Publication Date: 2021-07

Variant appearance in text: EX1: 1A>G
PubMed Link: 34059789
Variant Present in the following documents:
  • 41423_2021_701_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Comprehensive analysis of spectral distribution of a large cohort of Chinese patients with non-syndromic oculocutaneous albinism facilitates genetic diagnosis.

Pigment Cell & Melanoma Research
Zhong, Zilin Z; Gu, Li L; Zheng, Xiujie X; Ma, Nengjun N; Wu, Zehua Z; Duan, Juan J; Zhang, Jun J; Chen, Jianjun J
Publication Date: 2019-09

Variant appearance in text: EX1: 1A>G
PubMed Link: 31077556
Variant Present in the following documents:
  • Main text
  • PCMR-32-672.pdf
View BVdb publication page