NM_006610.4(MASP2):c.1590C>T (p.Asp530=) AND Immunodeficiency due to MASP-2 deficiency
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 14, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000386253.5
Allele description [Variation Report for NM_006610.4(MASP2):c.1590C>T (p.Asp530=)]
NM_006610.4(MASP2):c.1590C>T (p.Asp530=)
Condition(s)
-
hypothetical protein AOQ84DRAFT_441627 [Glonium stellatum]
hypothetical protein AOQ84DRAFT_441627 [Glonium stellatum]gi|1046798260|gb|OCL05167.1||gnl|WG O|AOQ84DRAFT_441627Protein
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See more...Assertion and evidence details
Last Updated: Apr 9, 2023