SNCA c.44T>A ;(p.V15D)

Variant ID: 4-90756775-A-T

NM_000345.3(SNCA):c.44T>A;(p.V15D)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


α-Synuclein V15A Variant in Familial Parkinson's Disease Exhibits a Weaker Lipid-Binding Property.

Movement Disorders : Official Journal Of The Movement Disorder Society
Daida, Kensuke K; Shimonaka, Shotaro S; Shiba-Fukushima, Kahori K; Ogata, Jun J; Yoshino, Hiroyo H; Okuzumi, Ayami A; Hatano, Taku T; Motoi, Yumiko Y; Hirunagi, Tomoki T; Katsuno, Masahisa M; Shindou, Hideo H; Funayama, Manabu M; Nishioka, Kenya K; Hattori, Nobutaka N; Imai, Yuzuru Y
Publication Date: 2022-10

Variant appearance in text: SNCA: V15D
PubMed Link: 35894540
Variant Present in the following documents:
  • Main text
  • MDS-37-2075.pdf
View BVdb publication page



A new alpha-synuclein missense variant (Thr72Met) in two Turkish families with Parkinson's disease.

Parkinsonism & Related Disorders
Fevga, Christina C; Park, Yangshin Y; Lohmann, Ebba E; Kievit, Anneke J AJ; Breedveld, Guido J GJ; Ferraro, Federico F; de Boer, Leon L; van Minkelen, Rick R; Hanagasi, Hasmet H; Boon, Agnita A; Wang, Wei W; Petsko, Gregory A GA; Hoang, Quyen Q QQ; Emre, Murat M; Bonifati, Vincenzo V
Publication Date: 2021-08

Variant appearance in text: SNCA: Val15Asp
PubMed Link: 34229155
Variant Present in the following documents:
  • Main text
  • nihms-1752483.pdf
View BVdb publication page



Analysis of rare variants of autosomal-dominant genes in a Chinese population with sporadic Parkinson's disease.

Molecular Genetics & Genomic Medicine
Zheng, Ran R; Jin, Chong-Yao CY; Chen, Ying Y; Ruan, Yang Y; Gao, Ting T; Lin, Zhi-Hao ZH; Dong, Jia-Xian JX; Yan, Ya-Ping YP; Tian, Jun J; Pu, Jia-Li JL; Zhang, Bao-Rong BR
Publication Date: 2020-10

Variant appearance in text: SNCA: Val15Asp
PubMed Link: 32794657
Variant Present in the following documents:
  • Main text
  • MGG3-8-e1449.pdf
View BVdb publication page