NM_007074.4(CORO1A):c.408T>C (p.Ile136=) AND Severe combined immunodeficiency due to CORO1A deficiency
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jun 13, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002220104.6
Allele description [Variation Report for NM_007074.4(CORO1A):c.408T>C (p.Ile136=)]
NM_007074.4(CORO1A):c.408T>C (p.Ile136=)
Condition(s)
-
Rhynchostegium eriense (0)
Conserved Domains
-
Homo sapiens glutamate ionotropic receptor AMPA type subunit 2 (GRIA2), transcri...
Homo sapiens glutamate ionotropic receptor AMPA type subunit 2 (GRIA2), transcript variant 1, mRNAgi|1825761143|ref|NM_000826.6|Nucleotide
-
RefSeq Protein Links for Gene (Select 135228) (16)
Protein
-
SSX2IP protein [Homo sapiens]
SSX2IP protein [Homo sapiens]gi|21707137|gb|AAH33637.1|Protein
-
Gene neighbors for Gene (Select 135228) (12)
Gene
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Last Updated: Sep 29, 2024