NM_007074.4(CORO1A):c.285C>T (p.Asn95=) AND Severe combined immunodeficiency due to CORO1A deficiency
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Dec 19, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001443281.7
Allele description [Variation Report for NM_007074.4(CORO1A):c.285C>T (p.Asn95=)]
NM_007074.4(CORO1A):c.285C>T (p.Asn95=)
Condition(s)
-
ADP-ribose glycohydrolase MACROD1 isoform X1 [Homo sapiens]
ADP-ribose glycohydrolase MACROD1 isoform X1 [Homo sapiens]gi|2462524767|ref|XP_054224541.1|Protein
-
Art5 ADP-ribosyltransferase 5 [Mus musculus]
Art5 ADP-ribosyltransferase 5 [Mus musculus]Gene ID:11875Gene
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Last Updated: Sep 29, 2024