PAH c.988G>A ;(p.E330K)

Variant ID: 12-103238191-C-T

NM_000277.1(PAH):c.988G>A;(p.E330K)

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:

Melanoma cases demonstrate increased carrier frequency of phenylketonuria/hyperphenylalanemia mutations.

Pigment Cell & Melanoma Research
Arbesman, Joshua J; Ravichandran, Sairekha S; Funchain, Pauline P; Thompson, Cheryl L CL
Publication Date: 2018-07

Variant appearance in text: PAH: E330K
PubMed Link: 29473999
Variant Present in the following documents:
  • Main text
View BVdb publication page