NM_006019.4(TCIRG1):c.2206C>A (p.Arg736Ser) AND Neutropenia, severe congenital, 1, autosomal dominant
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Nov 25, 2014
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000224333.1
Allele description [Variation Report for NM_006019.4(TCIRG1):c.2206C>A (p.Arg736Ser)]
NM_006019.4(TCIRG1):c.2206C>A (p.Arg736Ser)
Condition(s)
Assertion and evidence details
Last Updated: Jul 8, 2023