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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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