NM_012291.5(ESPL1):c.4676G>A (p.Arg1559Gln) AND not specified
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jan 16, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004380886.1
Allele description [Variation Report for NM_012291.5(ESPL1):c.4676G>A (p.Arg1559Gln)]
NM_012291.5(ESPL1):c.4676G>A (p.Arg1559Gln)
Condition(s)
- Synonyms:
- AllHighlyPenetrant
- Identifiers:
- MedGen: CN169374
-
ubiquitin carboxyl-terminal hydrolase isozyme L3 isoform 1 [Homo sapiens]
ubiquitin carboxyl-terminal hydrolase isozyme L3 isoform 1 [Homo sapiens]gi|401709950|ref|NP_001257881.1|Protein
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See more...Assertion and evidence details
Last Updated: May 7, 2024