NM_002838.5(PTPRC):c.1034-11C>A AND Immunodeficiency 104
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Sep 29, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003841822.2
Allele description [Variation Report for NM_002838.5(PTPRC):c.1034-11C>A]
NM_002838.5(PTPRC):c.1034-11C>A
Condition(s)
- Name:
- Immunodeficiency 104
- Synonyms:
- SCID, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-POSITIVE; Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive; IMMUNODEFICIENCY 104, SEVERE COMBINED; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0012163; MedGen: C5676890; OMIM: 608971
-
Homo sapiens NOP protein chaperone 1 (NOPCHAP1), mRNA
Homo sapiens NOP protein chaperone 1 (NOPCHAP1), mRNAgi|1519316412|ref|NM_152318.3|Nucleotide
-
serine/arginine repetitive matrix protein 2 isoform X1 [Mus musculus]
serine/arginine repetitive matrix protein 2 isoform X1 [Mus musculus]gi|1720391393|ref|XP_030105988.1|Protein
-
potassium voltage-gated channel subfamily H member 6 isoform X3 [Homo sapiens]
potassium voltage-gated channel subfamily H member 6 isoform X3 [Homo sapiens]gi|1034601540|ref|XP_016880666.1|Protein
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Last Updated: Sep 29, 2024