PTS c.326A>G ;(p.N109S)

Variant ID: 11-112104166-A-G

NM_000317.2(PTS):c.326A>G;(p.N109S)

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:

Massive parallel sequencing as a new diagnostic approach for phenylketonuria and tetrahydrobiopterin-deficiency in Thailand.

Bmc Medical Genetics
Chaiyasap, Pongsathorn P; Ittiwut, Chupong C; Srichomthong, Chalurmpon C; Sangsin, Apiruk A; Suphapeetiporn, Kanya K; Shotelersuk, Vorasuk V
Publication Date: 2017-09-16

Variant appearance in text: PTS: Asn109Ser
PubMed Link: 28915855
Variant Present in the following documents:
  • Main text
  • 12881_2017_Article_464.pdf
View BVdb publication page