NM_006019.4(TCIRG1):c.1459del (p.Trp487fs) AND Autosomal recessive osteopetrosis 1
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- May 27, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002507703.1
Allele description [Variation Report for NM_006019.4(TCIRG1):c.1459del (p.Trp487fs)]
NM_006019.4(TCIRG1):c.1459del (p.Trp487fs)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024