NM_007074.4(CORO1A):c.903C>T (p.Ala301=) AND Severe combined immunodeficiency due to CORO1A deficiency
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- May 5, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003742317.2
Allele description [Variation Report for NM_007074.4(CORO1A):c.903C>T (p.Ala301=)]
NM_007074.4(CORO1A):c.903C>T (p.Ala301=)
Condition(s)
-
RNA polymerase second largest subunit, partial [Chlorophyllum palaeotropicum]
RNA polymerase second largest subunit, partial [Chlorophyllum palaeotropicum]gi|1384892675|gb|AWF94270.1|Protein
-
Chloramphenicol
ChloramphenicolAn antibiotic first isolated from cultures of Streptomyces venequelae in 1947 but now produced synthetically. It has a relatively simple structure and was the first broad-spec...<br/>MeSH
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024