UBA1 c.1996T>A ;(p.Y666N)

Variant ID: X-47069079-T-A

NM_003334.3(UBA1):c.1996T>A;(p.Y666N)

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:

Novel causative variants of VEXAS in UBA1 detected through whole genome transcriptome sequencing in a large cohort of hematological malignancies.

Leukemia
Sakuma, Maki M; Blombery, Piers P; Meggendorfer, Manja M; Haferlach, Claudia C; Lindauer, Markus M; Martens, Uwe M UM; Kern, Wolfgang W; Haferlach, Torsten T; Walter, Wencke W
Publication Date: 2023-02-23

Variant appearance in text: UBA1: 1996T>A; Tyr666Asn
PubMed Link: 36823397
Variant Present in the following documents:
  • 41375_2023_1857_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page