FSIP2 c.11963C>G ;(p.S3988C)

Variant ID: 2-186665996-C-G

NM_173651.4(FSIP2):c.11963C>G;(p.S3988C)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Whole-genome sequencing identifies new candidate genes for nonobstructive azoospermia.

Andrology
Malcher, Agnieszka A; Stokowy, Tomasz T; Berman, Andrea A; Olszewska, Marta M; Jedrzejczak, Piotr P; Sielski, Dawid D; Nowakowski, Adam A; Rozwadowska, Natalia N; Yatsenko, Alexander N AN; Kurpisz, Maciej K MK
Publication Date: 2022-11

Variant appearance in text: rs113773415
PubMed Link: 36017582
Variant Present in the following documents:
  • Main text
  • ANDR-10-1605.pdf
View BVdb publication page



Activated leukocyte cell adhesion molecule/cluster of differentiation 166 rs10933819 (G>A) variant is associated with familial intracranial aneurysms.

Biomedical Reports
Aitkulova, Akbota A; Mukhtarova, Kymbat K; Zholdybayeva, Elena E; Medetov, Yerkin Y; Dzhamantayeva, Botagoz B; Kassymbek, Kuat K; Utupov, Talgat T; Akhmetollayev, Ilyas I; Akshulakov, Serik S; Kulmambetova, Gulmira G; Ramankulov, Yerlan Y
Publication Date: 2022-08

Variant appearance in text: rs113773415
PubMed Link: 35815187
Variant Present in the following documents:
  • Supplementary_Data.xlsx, sheet 1
View BVdb publication page



Exome Sequencing in BRCA1- and BRCA2-Negative Greek Families Identifies MDM1 and NBEAL1 as Candidate Risk Genes for Hereditary Breast Cancer.

Frontiers In Genetics
Glentis, Stavros S; Dimopoulos, Alexandros C AC; Rouskas, Konstantinos K; Ntritsos, George G; Evangelou, Evangelos E; Narod, Steven A SA; Mes-Masson, Anne-Marie AM; Foulkes, William D WD; Rivera, Barbara B; Tonin, Patricia N PN; Ragoussis, Jiannis J; Dimas, Antigone S AS
Publication Date: 2019

Variant appearance in text: rs113773415
PubMed Link: 31681433
Variant Present in the following documents:
  • DataSheet_1.xlsx, sheet 10
View BVdb publication page