PAH c.743T>G ;(p.L248R)

Variant ID: 12-103246692-A-C

NM_000277.1(PAH):c.743T>G;(p.L248R)

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:

Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.

Genome Biology
,
Publication Date: 2015-06-26

Variant appearance in text: rs62507340
PubMed Link: 26112015
Variant Present in the following documents:
  • 13059_2015_693_MOESM3_ESM.xls, sheet 1
View BVdb publication page