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.




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
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