PAH c.30C>T ;(p.G10=)

Variant ID: 12-103310879-G-A

NM_000277.1(PAH):c.30C>T;(p.G10=)

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:

In silico methods for predicting functional synonymous variants.

Genome Biology
Lin, Brian C BC; Katneni, Upendra U; Jankowska, Katarzyna I KI; Meyer, Douglas D; Kimchi-Sarfaty, Chava C
Publication Date: 2023-05-22

Variant appearance in text: PAH: G10G
PubMed Link: 37217943
Variant Present in the following documents:
  • 13059_2023_Article_2966.pdf
View BVdb publication page