NM_000350.3(ABCA4):c.4880del (p.Leu1627fs) AND not provided
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Dec 7, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001232685.6
Allele description [Variation Report for NM_000350.3(ABCA4):c.4880del (p.Leu1627fs)]
NM_000350.3(ABCA4):c.4880del (p.Leu1627fs)
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: C3661900
-
cdc42 effector protein 2 [Homo sapiens]
cdc42 effector protein 2 [Homo sapiens]gi|5802998|ref|NP_006770.1|Protein
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Last Updated: Oct 13, 2024