NM_003721.4(RFXANK):c.639C>T (p.Gly213=) AND MHC class II deficiency
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Nov 23, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002001228.3
Allele description [Variation Report for NM_003721.4(RFXANK):c.639C>T (p.Gly213=)]
NM_003721.4(RFXANK):c.639C>T (p.Gly213=)
Condition(s)
- Name:
- MHC class II deficiency
- Synonyms:
- BARE LYMPHOCYTE SYNDROME, TYPE II; BLS, TYPE II; SCID, HLA CLASS II-NEGATIVE; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0008855; MedGen: C2931418; Orphanet: 572; OMIM: 209920
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PubChem Compound Links for Gene (Select 84129) (38)
PubChem Compound
-
Salmonella enterica subsp. enterica serovar Infantis strain Z1323CSL0001 plasmid...
Salmonella enterica subsp. enterica serovar Infantis strain Z1323CSL0001 plasmid pZ1323CSL0001-2, complete sequencegi|2717326427|ref|NZ_CP148839.1|Nucleotide
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Gene Links for GEO Profiles (Select 3590454) (3)
Gene
-
Related DataSets for GEO Profiles (Select 70566011) (1)
GEO DataSets
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Synthetic androgen R1881 effect on transcription factor SRF-deficient prostate c...
Synthetic androgen R1881 effect on transcription factor SRF-deficient prostate cancer cellsAccession: GDS3861GEO DataSets
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See more...Assertion and evidence details
Last Updated: Feb 28, 2024