PTS c.65C>G ;(p.A22G)

Variant ID: 11-112097231-C-G

NM_000317.2(PTS):c.65C>G;(p.A22G)

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:

Genetic evaluation of hyperphenylalaninemia patients with tetrahydrobiopterin deficiency in Iranian population: Identification of four novel disease-causing variants.

Molecular Genetics & Genomic Medicine
Sadat Fatemi, Seyedeh Helia SH; Eshraghi, Peyman P; Ghanei, Mahmoud M; Hamzehloei, Tayebeh T
Publication Date: 2022-11-16

Variant appearance in text: PTS: 65C>G
PubMed Link: 36382472
Variant Present in the following documents:
  • Main text
  • MGG3-10-e2081.pdf
View BVdb publication page