NM_000540.3(RYR1):c.1668_1669delinsAA (p.Ser557Thr) AND RYR1-related disorder
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Oct 26, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003757063.2
Allele description [Variation Report for NM_000540.3(RYR1):c.1668_1669delinsAA (p.Ser557Thr)]
NM_000540.3(RYR1):c.1668_1669delinsAA (p.Ser557Thr)
Condition(s)
- Name:
- RYR1-related disorder
- Synonyms:
- RYR1-Related Disorders; RYR1-related condition
- Identifiers:
- MedGen: CN239331
-
glycerate kinase [Dromaius novaehollandiae]
glycerate kinase [Dromaius novaehollandiae]gi|2718498907|ref|XP_025962313.2|Protein
-
729201[uid] AND (alive[prop]) (1)
Gene
-
SPACA5B sperm acrosome associated 5B [Homo sapiens]
SPACA5B sperm acrosome associated 5B [Homo sapiens]Gene ID:729201Gene
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Last Updated: Sep 29, 2024