NM_000448.3(RAG1):c.2033_2034del (p.Leu678fs) AND multiple conditions
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Sep 11, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003812533.2
Allele description [Variation Report for NM_000448.3(RAG1):c.2033_2034del (p.Leu678fs)]
NM_000448.3(RAG1):c.2033_2034del (p.Leu678fs)
Condition(s)
- Name:
- Combined immunodeficiency with skin granulomas
- Synonyms:
- Combined cellular and humoral immune defects with granulomas
- Identifiers:
- MONDO: MONDO:0009306; MedGen: C2673536; OMIM: 233650
- Name:
- Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
- Synonyms:
- SCID, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-POSITIVE; Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive; SCID, AR, T-cell negative, B-cell negative, NK cell-positive; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0011086; MedGen: C1832322; Orphanet: 331206; OMIM: 601457
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Component Of for Nucleotide (Select 17154409) (5)
Nucleotide
-
RefSeq RNA Links for Gene (Select 55108) (8)
Nucleotide
-
GNAT family N-acetyltransferase [Terribacillus goriensis]
GNAT family N-acetyltransferase [Terribacillus goriensis]gi|740773875|ref|WP_038559159.1|Protein
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PREDICTED: Homo sapiens BSD domain containing 1 (BSDC1), transcript variant X1, ...
PREDICTED: Homo sapiens BSD domain containing 1 (BSDC1), transcript variant X1, mRNAgi|2217268620|ref|XM_047423812.1|Nucleotide
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Last Updated: Sep 29, 2024