NM_001606.5(ABCA2):c.5126C>T (p.Ala1709Val) AND ABCA2-related disorder
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Dec 13, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003917329.1
Allele description
NM_001606.5(ABCA2):c.5126C>T (p.Ala1709Val)
Condition(s)
- Name:
- ABCA2-related disorder
- Synonyms:
- ABCA2-related condition
- Identifiers:
-
cytochrome oxidase subunit I, partial (mitochondrion) [Aphaenogaster texana]
cytochrome oxidase subunit I, partial (mitochondrion) [Aphaenogaster texana]gi|260181641|gb|ACX35473.1|Protein
-
Melanoma antigen family A, 12 [Homo sapiens]
Melanoma antigen family A, 12 [Homo sapiens]gi|13097312|gb|AAH03408.1|Protein
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Last Updated: May 19, 2024