NM_000540.3(RYR1):c.7323+15_7323+20del AND RYR1-related disorder
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Oct 10, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002765695.3
Allele description [Variation Report for NM_000540.3(RYR1):c.7323+15_7323+20del]
NM_000540.3(RYR1):c.7323+15_7323+20del
Condition(s)
- Name:
- RYR1-related disorder
- Synonyms:
- RYR1-Related Disorders; RYR1-related condition
- Identifiers:
- MedGen: CN239331
-
260724[uid] (1)
Taxonomy
-
Mus musculus 6 days neonate head cDNA, RIKEN full-length enriched library, clone...
Mus musculus 6 days neonate head cDNA, RIKEN full-length enriched library, clone:5430425J12 product:hypothetical protein, full insert sequencegi|12856523|dbj|AK017337.1|Nucleotide
-
hypothetical protein [Bifidobacterium longum]
hypothetical protein [Bifidobacterium longum]gi|497767301|ref|WP_010081485.1|Protein
-
CYP17A1 cytochrome P450 family 17 subfamily A member 1 [Homo sapiens]
CYP17A1 cytochrome P450 family 17 subfamily A member 1 [Homo sapiens]Gene ID:1586Gene
-
MFS transporter [Paenibacillus sp. JDR-2]
MFS transporter [Paenibacillus sp. JDR-2]gi|502363838|ref|WP_012772706.1|Protein
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Last Updated: Sep 29, 2024