NM_001611.5(ACP5):c.330C>T (p.Asn110=) AND Spondyloenchondrodysplasia with immune dysregulation
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Feb 10, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002202579.6
Allele description [Variation Report for NM_001611.5(ACP5):c.330C>T (p.Asn110=)]
NM_001611.5(ACP5):c.330C>T (p.Asn110=)
Condition(s)
- Name:
- Spondyloenchondrodysplasia with immune dysregulation (SPENCDI)
- Synonyms:
- COMBINED IMMUNODEFICIENCY WITH AUTOIMMUNITY AND SPONDYLOMETAPHYSEAL DYSPLASIA; ROIFMAN IMMUNOSKELETAL SYNDROME; SPONDYLOENCHONDRODYSPLASIA WITH OR WITHOUT IMMUNE DYSREGULATION
- Identifiers:
- MONDO: MONDO:0011939; MedGen: C1842763; OMIM: 607944
-
Calvitimela armeniaca voucher O L-224526 elongation factor 1 alpha (tef-1) gene,...
Calvitimela armeniaca voucher O L-224526 elongation factor 1 alpha (tef-1) gene, partial cdsgi|2609769590|gb|OR738419.1|Nucleotide
-
peptidyl serine alpha-galactosyltransferase, partial [Arabidopsis thaliana]
peptidyl serine alpha-galactosyltransferase, partial [Arabidopsis thaliana]gi|1182267568|gb|ARJ31457.1|Protein
-
predicted protein [Ostreococcus lucimarinus CCE9901]
predicted protein [Ostreococcus lucimarinus CCE9901]gi|144576114|gnl|jgi|OSTLU_28999|gb 4183.1|Protein
-
hypothetical protein C7M40_02259 [Lactiplantibacillus plantarum]
hypothetical protein C7M40_02259 [Lactiplantibacillus plantarum]gi|1799524302|gnl|PRJNA438180|C7M40 9|gb|QHM50293.1|Protein
-
Rattus norvegicus intelectin 1 (Itln1), mRNA
Rattus norvegicus intelectin 1 (Itln1), mRNAgi|77917589|ref|NM_001034946.1|Nucleotide
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Last Updated: Sep 29, 2024