NM_002838.5(PTPRC):c.2939-4A>C AND Immunodeficiency 104
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Feb 22, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003868400.2
Allele description [Variation Report for NM_002838.5(PTPRC):c.2939-4A>C]
NM_002838.5(PTPRC):c.2939-4A>C
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
-
Gimesia maris strain Mal35 chromosome
Gimesia maris strain Mal35 chromosomegi|1712536321|gnl|DSMZ|Mal35_contig |gb|CP036341.1|Nucleotide
-
Thalassoglobus polymorphus strain Mal48 chromosome
Thalassoglobus polymorphus strain Mal48 chromosomegi|1712486265|gnl|DSMZ|Mal48_contig |gb|CP036267.1|Nucleotide
-
Wickerhamia fluorescens strain NRRL YB-4819 translation elongation factor 1-alph...
Wickerhamia fluorescens strain NRRL YB-4819 translation elongation factor 1-alpha gene, partial cdsgi|390195265|gb|JQ699061.1|Nucleotide
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Last Updated: Sep 29, 2024