NM_000540.3(RYR1):c.14421CTT[2] (p.Phe4810del) AND not provided
- Germline classification:
- Conflicting interpretations of pathogenicity (2 submissions)
- Last evaluated:
- Jul 1, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000520157.25
Allele description
NM_000540.3(RYR1):c.14421CTT[2] (p.Phe4810del)
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: C3661900
-
Mus musculus SEC22 homolog A, vesicle trafficking protein (Sec22a), transcript v...
Mus musculus SEC22 homolog A, vesicle trafficking protein (Sec22a), transcript variant 8, mRNAgi|2463694953|ref|NM_001418702.1|Nucleotide
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Last Updated: Sep 29, 2024