NR0B2 c.355A>T ;(p.K119*)

Variant ID: 1-27240077-T-A

NM_021969.2(NR0B2):c.355A>T;(p.K119*)

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 novel de novo nonsense mutation in SALL4 causing duane radial ray syndrome: a case report and expanding the phenotypic spectrum.

Bmc Medical Genomics
Ajam-Hosseini, Mobarakeh M; Parvini, Farshid F; Angaji, Abdolhamid A
Publication Date: 2023-02-24

Variant appearance in text: NR0B2: K119X
PubMed Link: 36829172
Variant Present in the following documents:
  • 12920_2023_1467_MOESM1_ESM.xls, sheet 1
View BVdb publication page