PDGFB c.161A>C ;(p.E54A)

Variant ID: 22-39629529-T-G

NM_002608.2(PDGFB):c.161A>C;(p.E54A)

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:

Clinical and radiological diversity in genetically confirmed primary familial brain calcification.

Scientific Reports
Koyama, Shingo S; Sato, Hidenori H; Kobayashi, Ryota R; Kawakatsu, Shinobu S; Kurimura, Masayuki M; Wada, Manabu M; Kawanami, Toru T; Kato, Takeo T
Publication Date: 2017-09-21

Variant appearance in text: PDGFB: Glu54Ala
PubMed Link: 28935882
Variant Present in the following documents:
  • Main text
  • 41598_2017_Article_11595.pdf
View BVdb publication page