NM_005864.4(EFS):c.635C>T (p.Pro212Leu) AND not specified
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 30, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004162044.1
Allele description [Variation Report for NM_005864.4(EFS):c.635C>T (p.Pro212Leu)]
NM_005864.4(EFS):c.635C>T (p.Pro212Leu)
Condition(s)
- Synonyms:
- AllHighlyPenetrant
- Identifiers:
- MedGen: CN169374
-
serine palmitoyltransferase small subunit A [Homo sapiens]
serine palmitoyltransferase small subunit A [Homo sapiens]gi|115527094|ref|NP_612145.2|Protein
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Last Updated: Oct 26, 2024