NM_052813.5(CARD9):c.86G>A (p.Arg29His) AND Predisposition to invasive fungal disease due to CARD9 deficiency
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Oct 17, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001216268.4
Allele description [Variation Report for NM_052813.5(CARD9):c.86G>A (p.Arg29His)]
NM_052813.5(CARD9):c.86G>A (p.Arg29His)
Condition(s)
- Name:
- Predisposition to invasive fungal disease due to CARD9 deficiency (IMD103)
- Synonyms:
- Candidiasis, familial, 2; CARD9 IMMUNODEFICIENCY; Candidiasis, familial, 2, autosomal recessive; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0008905; MedGen: C1859353; OMIM: 212050
Assertion and evidence details
Last Updated: Dec 24, 2023