NM_000536.4(RAG2):c.648C>A (p.Ile216=) AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Dec 13, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001470827.6
Allele description [Variation Report for NM_000536.4(RAG2):c.648C>A (p.Ile216=)]
NM_000536.4(RAG2):c.648C>A (p.Ile216=)
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
-
Chromosome neighbors for GEO Profiles (Select 65024739) (20)
GEO Profiles
-
Nucleotide Links for BioSample (Select 34073861) (177)
Nucleotide
-
Sequence 11 from Patent WO03054008
Sequence 11 from Patent WO03054008gi|37605063|emb|AX799092.1||pat|WO| 008|11Nucleotide
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Feb 28, 2024