NM_000540.3(RYR1):c.1453A>G (p.Met485Val) AND not specified
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Mar 7, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000294840.11
Allele description [Variation Report for NM_000540.3(RYR1):c.1453A>G (p.Met485Val)]
NM_000540.3(RYR1):c.1453A>G (p.Met485Val)
Condition(s)
- Synonyms:
- AllHighlyPenetrant
- Identifiers:
- MedGen: CN169374
-
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dad16e01.y1 Wellcome CRC pCS107 tropicalis St10-12 Xenopus tropicalis cDNA clone...
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Skin Angiokeratoma
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Last Updated: Sep 8, 2024