NM_001146028.2(JPH4):c.1624C>T (p.Leu542Phe) AND not specified
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jul 6, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004235577.1
Allele description [Variation Report for NM_001146028.2(JPH4):c.1624C>T (p.Leu542Phe)]
NM_001146028.2(JPH4):c.1624C>T (p.Leu542Phe)
Condition(s)
- Synonyms:
- AllHighlyPenetrant
- Identifiers:
- MedGen: CN169374
Assertion and evidence details
Last Updated: Jun 2, 2024