NM_001122955.4(BSCL2):c.844_854del (p.Ala282fs) AND Berardinelli-Seip congenital lipodystrophy
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 6, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003311824.1
Allele description [Variation Report for NM_001122955.4(BSCL2):c.844_854del (p.Ala282fs)]
NM_001122955.4(BSCL2):c.844_854del (p.Ala282fs)
Condition(s)
- Name:
- Berardinelli-Seip congenital lipodystrophy
- Identifiers:
- MONDO: MONDO:0018883; MedGen: CN262437
Assertion and evidence details
Last Updated: Jun 23, 2024