NM_000540.3(RYR1):c.7625G>A (p.Ser2542Asn) AND not provided
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Apr 3, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003130115.3
Allele description [Variation Report for NM_000540.3(RYR1):c.7625G>A (p.Ser2542Asn)]
NM_000540.3(RYR1):c.7625G>A (p.Ser2542Asn)
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: C3661900
-
Homo sapiens isolate:CHM13
Homo sapiens isolate:CHM13Homo sapiens isolate:CHM13 RefSeq Genome sequencing and assemblyBioProject
-
BioProject Links for Protein (Select 2462556655) (1)
BioProject
-
Gene neighbors for Gene (Select 121079957) (8)
Gene
-
LOC121079957[gene] (16)
ClinVar
-
PREDICTED: Homo sapiens zinc finger and BTB domain containing 4 (ZBTB4), transcr...
PREDICTED: Homo sapiens zinc finger and BTB domain containing 4 (ZBTB4), transcript variant X11, mRNAgi|2462556658|ref|XM_054316792.1|Nucleotide
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Last Updated: Sep 29, 2024