NAGS c.338G>A ;(p.C113Y)

Variant ID: 17-42082369-G-A

NM_153006.2(NAGS):c.338G>A;(p.C113Y)

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:

Clinical characteristics of primary carnitine deficiency: A structured review using a case-by-case approach.

Journal Of Inherited Metabolic Disease
Crefcoeur, Loek L LL; Visser, Gepke G; Ferdinandusse, Sacha S; Wijburg, Frits A FA; Langeveld, Mirjam M; Sjouke, Barbara B
Publication Date: 2022-05

Variant appearance in text: NAGS: 338G>A
PubMed Link: 34997761
Variant Present in the following documents:
  • Main text
  • JIMD-45-386.pdf
View BVdb publication page