RYR1 c.12374_12395del ;(p.E4125Gfs*15)

Variant ID: 19-39051844-GAAGAGTTCGCCAACCGCTTCCA-G

NM_000540.2(RYR1):c.12374_12395del;(p.E4125Gfs*15)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Congenital Hypotonia: Cracking a SAGA of consanguineous kindred harboring four genetic variants.

Molecular Genetics & Genomic Medicine
Kalfon, Limor L; Baydany, Meirav M; Samra, Nadra N; Heno, Nawaf N; Segal, Zvi Z; Eran, Ayelet A; Yulevich, Alon A; Fellig, Yakov Y; Mandel, Hanna H; Falik-Zaccai, Tzipora C TC
Publication Date: 2021-12-31

Variant appearance in text: RYR1: 12374_12395del
PubMed Link: 34970863
Variant Present in the following documents:
  • Main text
  • MGG3-10-e1849.pdf
View BVdb publication page



Congenital Hypotonia: Cracking a SAGA of consanguineous kindred harboring four genetic variants.

Molecular Genetics & Genomic Medicine
Kalfon, Limor L; Baydany, Meirav M; Samra, Nadra N; Heno, Nawaf N; Segal, Zvi Z; Eran, Ayelet A; Yulevich, Alon A; Fellig, Yakov Y; Mandel, Hanna H; Falik-Zaccai, Tzipora C TC
Publication Date: 2022-01

Variant appearance in text: RYR1: 12374_12395del
PubMed Link: 34970863
Variant Present in the following documents:
  • Main text
  • MGG3-10-e1849.pdf
View BVdb publication page