NM_001611.5(ACP5):c.735+13T>A AND Spondyloenchondrodysplasia with immune dysregulation
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Aug 4, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003642267.2
Allele description [Variation Report for NM_001611.5(ACP5):c.735+13T>A]
NM_001611.5(ACP5):c.735+13T>A
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
-
Mus musculus solute carrier family 2, (facilitated glucose transporter), member ...
Mus musculus solute carrier family 2, (facilitated glucose transporter), member 8, mRNA (cDNA clone IMAGE:4014605), partial cdsgi|18256140|gb|BC021758.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024