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RYR1 c.1810T>A ;(p.S604T)
Variant ID: 19-38948155-T-A
NM_000540.2(
RYR1
):c.1810T>A;(p.S604T)
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:
Clinical exome sequencing in 509 Middle Eastern families with suspected Mendelian diseases: The Qatari experience.
American Journal Of Medical Genetics. Part A
Al-Dewik, Nader N; Mohd, Howaida H; Al-Mureikhi, Mariam M; Ali, Rehab R; Al-Mesaifri, Fatma F; Mahmoud, Laila L; Shahbeck, Noora N; El-Akouri, Karen K; Almulla, Mariam M; Al Sulaiman, Reem R; Musa, Sara S; Al-Marri, Ajayeb Al-Nabet AA; Richard, Gabriele G; Juusola, Jane J; Solomon, Benjamin D BD; Alkuraya, Fowzan S FS; Ben-Omran, Tawfeg T
Publication Date: 2019-06
Variant appearance in text: RYR1: S604T
PubMed Link:
30919572
Variant Present in the following documents:
Main text
View BVdb publication page