NM_000540.3(RYR1):c.58G>A (p.Val20Ile) AND not specified
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 3, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003988247.1
Allele description [Variation Report for NM_000540.3(RYR1):c.58G>A (p.Val20Ile)]
NM_000540.3(RYR1):c.58G>A (p.Val20Ile)
Condition(s)
- Synonyms:
- AllHighlyPenetrant
- Identifiers:
- MedGen: CN169374
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NLRP11 NLR family pyrin domain containing 11 [Homo sapiens]
NLRP11 NLR family pyrin domain containing 11 [Homo sapiens]Gene ID:204801Gene
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Gene Links for GEO Profiles (Select 72677510) (1)
Gene
-
Profile neighbors for GEO Profiles (Select 30553470) (200)
GEO Profiles
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Chromosome neighbors for GEO Profiles (Select 72666379) (20)
GEO Profiles
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See more...Assertion and evidence details
Last Updated: May 7, 2024