TNFRSF11A c.1371_1372del ;(p.C457*)

Variant ID: 18-60036518-CTG-C

NM_003839.3(TNFRSF11A):c.1371_1372del;(p.C457*)

This variant was identified in 1 publication

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

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: 1371_1372delTG
PubMed Link: 35812760
Variant Present in the following documents:
  • Main text
  • fgene-13-938814.pdf
View BVdb publication page