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SNCA c.*1287G>C
Variant ID: 4-90646492-C-G
NM_000345.3(
SNCA
):c.*1287G>C
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
SNCA 3' UTR Genetic Variants in Patients with Parkinson's Disease.
Biomolecules
Blažeković, Antonela A; Jerčić, Kristina Gotovac KG; Borovečki, Fran F
Publication Date: 2021-11-30
Variant appearance in text: rs377356638
PubMed Link:
34944443
Variant Present in the following documents:
Main text
biomolecules-11-01799.pdf
View BVdb publication page
SNCA 3' UTR Genetic Variants in Patients with Parkinson's Disease.
Biomolecules
Blažeković, Antonela A; Jerčić, Kristina Gotovac KG; Borovečki, Fran F
Publication Date: 2021-11-30
Variant appearance in text: rs377356638
PubMed Link:
34944443
Variant Present in the following documents:
Main text
biomolecules-11-01799.pdf
View BVdb publication page
Next-generation sequencing identified novel Desmoplakin frame-shift variant in patients with Arrhythmogenic cardiomyopathy.
Bmc Cardiovascular Disorders
Lin, Xiaoping X; Ma, Yuankun Y; Cai, Zhejun Z; Wang, Qiyuan Q; Wang, Lihua L; Huo, Zhaoxia Z; Hu, Dan D; Wang, Jian'an J; Xiang, Meixiang M
Publication Date: 2020-02-11
Variant appearance in text: rs377356638
PubMed Link:
32046637
Variant Present in the following documents:
12872_2020_1369_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page
PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.
Genome Biology
Zhang, Chao C; Gao, Yang Y; Ning, Zhilin Z; Lu, Yan Y; Zhang, Xiaoxi X; Liu, Jiaojiao J; Xie, Bo B; Xue, Zhe Z; Wang, Xiaoji X; Yuan, Kai K; Ge, Xueling X; Pan, Yuwen Y; Liu, Chang C; Tian, Lei L; Wang, Yuchen Y; Lu, Dongsheng D; Hoh, Boon-Peng BP; Xu, Shuhua S
Publication Date: 2019-10-22
Variant appearance in text: rs377356638
PubMed Link:
31640808
Variant Present in the following documents:
13059_2019_1838_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page