SYCP1 c.1747C>G ;(p.L583V)

Variant ID: 1-115466098-C-G

NM_003176.2(SYCP1):c.1747C>G;(p.L583V)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


SMAP is a pipeline for sample matching in proteogenomics.

Nature Communications
Li, Ling L; Niu, Mingming M; Erickson, Alyssa A; Luo, Jie J; Rowbotham, Kincaid K; Guo, Kai K; Huang, He H; Li, Yuxin Y; Jiang, Yi Y; Hur, Junguk J; Liu, Chunyu C; Peng, Junmin J; Wang, Xusheng X
Publication Date: 2022-02-08

Variant appearance in text: SYCP1: L583V
PubMed Link: 35136070
Variant Present in the following documents:
  • 41467_2022_28411_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Screening of targeted panel genes in Brazilian patients with primary ovarian insufficiency.

Plos One
França, Monica M MM; Funari, Mariana F A MFA; Lerario, Antonio M AM; Santos, Mariza G MG; Nishi, Mirian Y MY; Domenice, Sorahia S; Moraes, Daniela R DR; Costalonga, Everlayny F EF; Maciel, Gustavo A R GAR; Maciel-Guerra, Andrea T AT; Guerra-Junior, Gil G; Mendonca, Berenice B BB
Publication Date: 2020

Variant appearance in text: rs147626229
PubMed Link: 33095795
Variant Present in the following documents:
  • Main text
  • pone.0240795.pdf
View BVdb publication page