CUX1 c.998C>T ;(p.A333V)

Variant ID: 7-101821918-C-T

NM_181552.3(CUX1):c.998C>T;(p.A333V)

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:

Skeletal and Bone Mineral Density Features, Genetic Profile in Congenital Disorders of Glycosylation: Review.

Diagnostics (Basel, Switzerland)
Lipiński, Patryk P; Stępień, Karolina M KM; Ciara, Elżbieta E; Tylki-Szymańska, Anna A; Jezela-Stanek, Aleksandra A
Publication Date: 2021-08-09

Variant appearance in text: CDP: 998C>T
PubMed Link: 34441372
Variant Present in the following documents:
  • diagnostics-11-01438.pdf
View BVdb publication page