SCN5A c.614_616del ;(p.Y205_T206delinsS)

Variant ID: 3-38655321-GTGT-G

NM_000335.4(SCN5A):c.614_616del;(p.Y205_T206delinsS)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Oligogenic Inheritance Underlying Incomplete Penetrance of PROKR2 Mutations in Hypogonadotropic Hypogonadism.

Frontiers In Genetics
Mkaouar, Rahma R; Abdallah, Lamia Cherif Ben LCB; Naouali, Chokri C; Lahbib, Saida S; Turki, Zinet Z; Elouej, Sahar S; Bouyacoub, Yosra Y; Somai, Maali M; Mcelreavey, Kenneth K; Bashamboo, Anu A; Abdelhak, Sonia S; Messaoud, Olfa O
Publication Date: 2021

Variant appearance in text: HH1: 614_616del
PubMed Link: 34539727
Variant Present in the following documents:
  • Main text
  • fgene-12-665174.pdf
View BVdb publication page