PAH c.190C>A ;(p.H64N)

Variant ID: 12-103288675-G-T

NM_000277.1(PAH):c.190C>A;(p.H64N)

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:

Investigation of parameters that affect the success rate of microarray-based allele-specific hybridization assays.

Plos One
Poulsen, Lena L; Søe, Martin Jensen MJ; Møller, Lisbeth Birk LB; Dufva, Martin M
Publication Date: 2011-03-22

Variant appearance in text: PAH: 190C>A
PubMed Link: 21445337
Variant Present in the following documents:
  • Main text
View BVdb publication page