FH c.32C>A ;(p.S11*)

Variant ID: 1-241682991-G-T

NM_000143.3(FH):c.32C>A;(p.S11*)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Immunogenicity and therapeutic targeting of a public neoantigen derived from mutated PIK3CA.

Nature Medicine
Chandran, Smita S SS; Ma, Jiaqi J; Klatt, Martin G MG; Dündar, Friederike F; Bandlamudi, Chaitanya C; Razavi, Pedram P; Wen, Hannah Y HY; Weigelt, Britta B; Zumbo, Paul P; Fu, Si Ning SN; Banks, Lauren B LB; Yi, Fei F; Vercher, Enric E; Etxeberria, Inaki I; Bestman, Watchain D WD; Da Cruz Paula, Arnaud A; Aricescu, Ilinca S IS; Drilon, Alexander A; Betel, Doron D; Scheinberg, David A DA; Baker, Brian M BM; Klebanoff, Christopher A CA
Publication Date: 2022-05

Variant appearance in text: FH: S11*
PubMed Link: 35484264
Variant Present in the following documents:
  • 41591_2022_Article_1786.pdf
View BVdb publication page



Identification of mental health and quality of life outcomes in primary care databases in the UK: a systematic review.

Bmj Open
Carreira, Helena H; Williams, Rachael R; Strongman, Helen H; Bhaskaran, Krishnan K
Publication Date: 2019-07-02

Variant appearance in text: FH: S11x
PubMed Link: 31270119
Variant Present in the following documents:
  • bmjopen-2019-029227.draft_revisions.pdf
  • bmjopen-2019-029227supp004.pdf
View BVdb publication page



Clinical relevance of screening checklists for detecting cancer predisposition syndromes in Asian childhood tumours.

Npj Genomic Medicine
Chan, Sock Hoai SH; Chew, Winston W; Ishak, Nur Diana Binte NDB; Lim, Weng Khong WK; Li, Shao-Tzu ST; Tan, Sheng Hui SH; Teo, Jing Xian JX; Shaw, Tarryn T; Chang, Kenneth K; Chen, Yong Y; Iyer, Prasad P; Tan, Enrica Ee Kar EEK; Seng, Michaela Su-Fern MS; Chan, Mei Yoke MY; Tan, Ah Moy AM; Low, Sharon Yin Yee SYY; Soh, Shui Yen SY; Loh, Amos Hong Pheng AHP; Ngeow, Joanne J
Publication Date: 2018

Variant appearance in text: FH: Ser11*
PubMed Link: 30455982
Variant Present in the following documents:
  • Main text
  • 41525_2018_Article_70.pdf
View BVdb publication page