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)
-
Cortinarius sp. PDD 105967 voucher PDD:105967 large subunit ribosomal RNA gene, ...
Cortinarius sp. PDD 105967 voucher PDD:105967 large subunit ribosomal RNA gene, partial sequencegi|1369210600|gb|MH108414.1|Nucleotide
-
neurotrophin receptor-interacting factor 1 isoform X4 [Rattus norvegicus]
neurotrophin receptor-interacting factor 1 isoform X4 [Rattus norvegicus]gi|2678866067|ref|XP_063117347.1|Protein
-
Homo sapiens protein phosphatase 2 scaffold subunit Aalpha (PPP2R1A), transcript...
Homo sapiens protein phosphatase 2 scaffold subunit Aalpha (PPP2R1A), transcript variant 1, mRNAgi|1519245226|ref|NM_014225.6|Nucleotide
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Last Updated: Sep 29, 2024