NM_000246.4(CIITA):c.1559C>T (p.Ala520Val) AND MHC class II deficiency
- Germline classification:
- Uncertain significance (2 submissions)
- Last evaluated:
- Jul 19, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000634009.5
Allele description [Variation Report for NM_000246.4(CIITA):c.1559C>T (p.Ala520Val)]
NM_000246.4(CIITA):c.1559C>T (p.Ala520Val)
Condition(s)
- Name:
- MHC class II deficiency
- Synonyms:
- BLS, TYPE II; SCID, HLA CLASS II-NEGATIVE; Bare Lymphocyte Syndrome; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0008855; MedGen: C2931418; Orphanet: 572; OMIM: PS209920
-
Sus scrofa chromosome 2 genomic scaffold
Sus scrofa chromosome 2 genomic scaffoldgi|328549236|gnl|WGS:AEMK01|chr2_14 15|gb|GL879227.1|Nucleotide
-
Rattus norvegicus TL0ABA42YJ24 mRNA sequence
Rattus norvegicus TL0ABA42YJ24 mRNA sequencegi|298900542|emb|FQ209449.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Jun 2, 2024