SYNJ1 c.83A>C ;(p.E28A)

Variant ID: 21-34099124-T-G

NM_203446.2(SYNJ1):c.83A>C;(p.E28A)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics
Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,
Publication Date: 2022-12-01

Variant appearance in text: SYNJ1: E67A; rs199750187
PubMed Link: 36413997
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



The Role of Genetic Testing in the Clinical Practice and Research of Early-Onset Parkinsonian Disorders in a Hungarian Cohort: Increasing Challenge in Genetic Counselling, Improving Chances in Stratification for Clinical Trials.

Frontiers In Genetics
Illés, Anett A; Csabán, Dóra D; Grosz, Zoltán Z; Balicza, Péter P; Gézsi, András A; Molnár, Viktor V; Bencsik, Renáta R; Gál, Anikó A; Klivényi, Péter P; Molnar, Maria Judit MJ
Publication Date: 2019

Variant appearance in text: SYNJ1: 200A>C; E67A; rs199750187
PubMed Link: 31737044
Variant Present in the following documents:
  • Main text
  • fgene-10-01061.pdf
View BVdb publication page