NM_000540.3(RYR1):c.7007G>T (p.Arg2336Leu) AND RYR1-related disorder
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Dec 9, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002895060.2
Allele description [Variation Report for NM_000540.3(RYR1):c.7007G>T (p.Arg2336Leu)]
NM_000540.3(RYR1):c.7007G>T (p.Arg2336Leu)
Condition(s)
- Name:
- RYR1-related disorder
- Synonyms:
- RYR1-Related Disorders; RYR1-related condition
- Identifiers:
- MedGen: CN239331
-
neurogenin-3 [Homo sapiens]
neurogenin-3 [Homo sapiens]gi|68989258|ref|NP_066279.2|Protein
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RecName: Full=Nucleosome assembly protein 1-like 2; AltName: Full=Brain-specific...
RecName: Full=Nucleosome assembly protein 1-like 2; AltName: Full=Brain-specific protein, X-linkedgi|22256943|sp|Q9ULW6.1|NP1L2_HUMANProtein
-
Chromosome neighbors for GEO Profiles (Select 102864159) (20)
GEO Profiles
-
Taxonomy Links for Protein (Select 1435778523) (1)
Taxonomy
-
Post-therapeutic relapse of psoriasis: whole skin punch biopsies
Post-therapeutic relapse of psoriasis: whole skin punch biopsiesAccession: GDS4606GEO DataSets
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See more...Assertion and evidence details
Last Updated: May 19, 2024