NM_007074.4(CORO1A):c.1124C>G (p.Thr375Arg) AND Severe combined immunodeficiency due to CORO1A deficiency
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Oct 17, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003026762.3
Allele description [Variation Report for NM_007074.4(CORO1A):c.1124C>G (p.Thr375Arg)]
NM_007074.4(CORO1A):c.1124C>G (p.Thr375Arg)
Condition(s)
-
regulator of G-protein signaling 18 [Homo sapiens]
regulator of G-protein signaling 18 [Homo sapiens]gi|18640750|ref|NP_570138.1|Protein
-
XTP3-transactivated protein A [Homo sapiens]
XTP3-transactivated protein A [Homo sapiens]gi|119572632|gb|EAW52247.1||gnl|WGS |hCP1724372Protein
-
Plant sample from Dendrobium sinense
Plant sample from Dendrobium sinensebiosample
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024