NM_001079.4(ZAP70):c.1645A>G (p.Met549Val) AND ZAP70-Related Severe Combined Immunodeficiency
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Oct 4, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001055985.4
Allele description [Variation Report for NM_001079.4(ZAP70):c.1645A>G (p.Met549Val)]
NM_001079.4(ZAP70):c.1645A>G (p.Met549Val)
Condition(s)
- Name:
- ZAP70-Related Severe Combined Immunodeficiency
- Identifiers:
- MedGen: C2931299
Assertion and evidence details
Last Updated: May 7, 2024