NM_000448.3(RAG1):c.2029C>G (p.Pro677Ala) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 14, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001909108.5
Allele description [Variation Report for NM_000448.3(RAG1):c.2029C>G (p.Pro677Ala)]
NM_000448.3(RAG1):c.2029C>G (p.Pro677Ala)
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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RefSeq Protein Links for Gene (Select 51144) (11)
Protein
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Full text in PMC (nucleotide) for Gene (Select 51144) (122)
PMC
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Conserved Domain Links for Gene (Select 286128) (5)
Conserved Domains
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Homo sapiens long intergenic non-protein coding RNA 1312 (LINC01312), long non-c...
Homo sapiens long intergenic non-protein coding RNA 1312 (LINC01312), long non-coding RNAgi|224282180|ref|NR_027030.1|Nucleotide
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RAD52 motif-containing protein 1 isoform 3 [Homo sapiens]
RAD52 motif-containing protein 1 isoform 3 [Homo sapiens]gi|253314443|ref|NP_001156592.1|Protein
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Last Updated: Sep 29, 2024