NM_001033855.3(DCLRE1C):c.678+19C>G AND Severe combined immunodeficiency due to DCLRE1C deficiency
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jan 9, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002695618.3
Allele description [Variation Report for NM_001033855.3(DCLRE1C):c.678+19C>G]
NM_001033855.3(DCLRE1C):c.678+19C>G
Condition(s)
- Name:
- Severe combined immunodeficiency due to DCLRE1C deficiency (RS-SCID)
- Synonyms:
- Severe combined immunodeficiency with sensitivity to ionizing radiation; SCID, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-POSITIVE, WITH SENSITIVITY TO IONIZING RADIATION
- Identifiers:
- MONDO: MONDO:0011225; MedGen: C1865370; Orphanet: 275; OMIM: 602450
-
Furin (paired basic amino acid cleaving enzyme) [Mus musculus]
Furin (paired basic amino acid cleaving enzyme) [Mus musculus]gi|29387061|gb|AAH48234.1|Protein
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Sep 29, 2024