NM_001606.5(ABCA2):c.5472C>T (p.His1824=) AND Intellectual developmental disorder with poor growth and with or without seizures or ataxia
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- May 18, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001420692.2
Allele description [Variation Report for NM_001606.5(ABCA2):c.5472C>T (p.His1824=)]
NM_001606.5(ABCA2):c.5472C>T (p.His1824=)
Condition(s)
-
forkhead box protein P4 isoform X4 [Homo sapiens]
forkhead box protein P4 isoform X4 [Homo sapiens]gi|2462605882|ref|XP_054210158.1|Protein
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Last Updated: Dec 24, 2023