NM_024753.5(TTC21B):c.1478A>G (p.Gln493Arg) AND Asphyxiating thoracic dystrophy 4
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 12, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000387321.5
Allele description [Variation Report for NM_024753.5(TTC21B):c.1478A>G (p.Gln493Arg)]
NM_024753.5(TTC21B):c.1478A>G (p.Gln493Arg)
Condition(s)
Assertion and evidence details
Last Updated: Mar 5, 2024