NM_000215.4(JAK3):c.252G>A (p.Pro84=) AND T-B+ severe combined immunodeficiency due to JAK3 deficiency
- Germline classification:
- Conflicting interpretations of pathogenicity (2 submissions)
- Last evaluated:
- Jan 31, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000865168.14
Allele description [Variation Report for NM_000215.4(JAK3):c.252G>A (p.Pro84=)]
NM_000215.4(JAK3):c.252G>A (p.Pro84=)
Condition(s)
- Name:
- T-B+ severe combined immunodeficiency due to JAK3 deficiency
- Synonyms:
- SCID, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-NEGATIVE; Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative; SCID, autosomal recessive, T-negative/B-positive type
- Identifiers:
- MONDO: MONDO:0010938; MedGen: C1833275; Orphanet: 35078; OMIM: 600802
-
Chain D, GLUTATHIONE S-TRANSFERASE
Chain D, GLUTATHIONE S-TRANSFERASEgi|4557947|pdb|1GTI|DProtein
-
myb-related protein 308 [Citrus x clementina]
myb-related protein 308 [Citrus x clementina]gi|1350229805|ref|XP_006449185.2|Protein
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AGENCOURT_11278968 Wellcome CRC pSK egg Xenopus laevis cDNA clone IMAGE:6867823 ...
AGENCOURT_11278968 Wellcome CRC pSK egg Xenopus laevis cDNA clone IMAGE:6867823 5', mRNA sequencegi|27514032|gnl|dbEST|16567443|gb|C 78.1|Nucleotide
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BP680324 Osada Taira anterior neuroectoderm (ANE) pCS105 cDNA library Xenopus la...
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Last Updated: Sep 29, 2024