NM_001061.7(TBXAS1):c.1235G>A (p.Arg412Gln) AND Ghosal hematodiaphyseal syndrome
- Germline classification:
- Conflicting interpretations of pathogenicity (2 submissions)
- Last evaluated:
- Jan 6, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000012664.28
Allele description [Variation Report for NM_001061.7(TBXAS1):c.1235G>A (p.Arg412Gln)]
NM_001061.7(TBXAS1):c.1235G>A (p.Arg412Gln)
Condition(s)
- Name:
- Ghosal hematodiaphyseal syndrome
- Identifiers:
- MedGen: C4016444
Assertion and evidence details
Last Updated: May 12, 2024