NM_001611.5(ACP5):c.500T>C (p.Phe167Ser) AND Spondyloenchondrodysplasia with immune dysregulation
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Nov 18, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002035159.5
Allele description [Variation Report for NM_001611.5(ACP5):c.500T>C (p.Phe167Ser)]
NM_001611.5(ACP5):c.500T>C (p.Phe167Ser)
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
-
Stevia tephra (1)
Taxonomy
-
protein NEN1-like isoform X2 [Cucurbita pepo subsp. pepo]
protein NEN1-like isoform X2 [Cucurbita pepo subsp. pepo]gi|1333168434|ref|XP_023515370.1|Protein
-
cytochrome c1-2, heme protein, mitochondrial [Cucurbita moschata]
cytochrome c1-2, heme protein, mitochondrial [Cucurbita moschata]gi|1279838052|ref|XP_022929464.1|Protein
-
uncharacterized protein LOC111006878 [Momordica charantia]
uncharacterized protein LOC111006878 [Momordica charantia]gi|1229763968|ref|XP_022134661.1|Protein
-
respiratory burst oxidase homolog protein A-like [Cucurbita maxima]
respiratory burst oxidase homolog protein A-like [Cucurbita maxima]gi|1280983495|ref|XP_022971705.1|Protein
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Last Updated: Sep 29, 2024