SNCA c.383C>T ;(p.P128L)

Variant ID: 4-90650352-G-A

NM_000345.3(SNCA):c.383C>T;(p.P128L)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Sequencing analysis of OMI/HTRA2 shows previously reported pathogenic mutations in neurologically normal controls.

Human Molecular Genetics
Simón-Sánchez, Javier J; Singleton, Andrew B AB
Publication Date: 2008-07-01

Variant appearance in text: PARK4: P128L
PubMed Link: 18364387
Variant Present in the following documents:
  • Main text
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