NM_021939.4(FKBP10):c.391+1G>A AND Bruck syndrome
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Apr 6, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001260285.2
Allele description [Variation Report for NM_021939.4(FKBP10):c.391+1G>A]
NM_021939.4(FKBP10):c.391+1G>A
Condition(s)
- Name:
- Bruck syndrome
- Identifiers:
- MONDO: MONDO:0017195; MedGen: C0432253
Assertion and evidence details
Last Updated: May 7, 2024