NM_000536.4(RAG2):c.624C>T (p.Val208=) AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jan 4, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003796000.1
Allele description [Variation Report for NM_000536.4(RAG2):c.624C>T (p.Val208=)]
NM_000536.4(RAG2):c.624C>T (p.Val208=)
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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Chromosome neighbors for GEO Profiles (Select 44248228) (20)
GEO Profiles
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2,3,7,8-tetrachlorodibenzo-p-dioxin effect on the ovary: dose response (II)
2,3,7,8-tetrachlorodibenzo-p-dioxin effect on the ovary: dose response (II)Accession: GDS2928GEO DataSets
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Related DataSets for GEO Profiles (Select 44243802) (1)
GEO DataSets
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Related DataSets for GEO Profiles (Select 44250070) (1)
GEO DataSets
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fj92a03.x1 zebrafish gridded kidney Danio rerio cDNA 3', mRNA sequence
fj92a03.x1 zebrafish gridded kidney Danio rerio cDNA 3', mRNA sequencegi|6949029|gnl|dbEST|3825757|gb|AW4 .1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Mar 5, 2024