TNFRSF11A c.1664del ;(p.S555Cfs*121)

Variant ID: 18-60052080-TC-T

NM_003839.3(TNFRSF11A):c.1664del;(p.S555Cfs*121)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


A Null Mutation of TNFRSF11A Causes Dysosteosclerosis, Not Osteopetrosis.

Frontiers In Genetics
Kırkgöz, Tarık T; Özkan, Behzat B; Hazan, Filiz F; Acar, Sezer S; Nalbantoğlu, Özlem Ö; Özkaya, Beyhan B; Kulalı, Melike Ataseven MA; Gürsoy, Semra S; Ikegawa, Shiro S; Guo, Long L
Publication Date: 2022

Variant appearance in text: TNFRSF11A: 1664del
PubMed Link: 35812760
Variant Present in the following documents:
  • Main text
  • fgene-13-938814.pdf
View BVdb publication page



Challenges in long-term control of hypercalcaemia with denosumab after haematopoietic stem cell transplantation for TNFRSF11A osteoclast-poor autosomal recessive osteopetrosis.

Bone Reports
Taylor-Miller, Tashunka T; Sivaprakasam, Ponni P; Smithson, Sarah F SF; Steward, Colin G CG; Burren, Christine P CP
Publication Date: 2021-06

Variant appearance in text: TNFRSF11A: 1664del
PubMed Link: 33364264
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page