NM_003824.4(FADD):c.139T>A (p.Ser47Thr) AND FADD-related immunodeficiency
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- May 11, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002711928.3
Allele description [Variation Report for NM_003824.4(FADD):c.139T>A (p.Ser47Thr)]
NM_003824.4(FADD):c.139T>A (p.Ser47Thr)
Condition(s)
-
inosine 5-monophosphate dehydrogenase [Clostridium cellulolyticum H10]
inosine 5-monophosphate dehydrogenase [Clostridium cellulolyticum H10]gi|220927850|ref|YP_002504759.1|Protein
-
chromosome 10 open reading frame 7, isoform CRA_b, partial [Homo sapiens]
chromosome 10 open reading frame 7, isoform CRA_b, partial [Homo sapiens]gi|119606724|gb|EAW86318.1||gnl|WGS |hCP1922034Protein
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Last Updated: Sep 29, 2024