NM_001424.6(EMP2):c.*9A>G AND EMP2-related disorder
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Nov 22, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003976300.1
Allele description
NM_001424.6(EMP2):c.*9A>G
Condition(s)
- Name:
- EMP2-related disorder
- Synonyms:
- EMP2-related condition
- Identifiers:
-
420[geneid] (58)
ClinVar
-
SdrD B-like domain-containing protein, partial [Bizionia echini]
SdrD B-like domain-containing protein, partial [Bizionia echini]gi|2712480413|ref|WP_339631014.1|Protein
-
DUF4177 domain-containing protein [Bizionia echini]
DUF4177 domain-containing protein [Bizionia echini]gi|1707213955|ref|WP_143094932.1|Protein
-
ATP-binding cassette sub-family A member 9 [Homo sapiens]
ATP-binding cassette sub-family A member 9 [Homo sapiens]gi|27477115|ref|NP_525022.2|Protein
-
LOC127896506 [Homo sapiens]
LOC127896506 [Homo sapiens]Gene ID:127896506Gene
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Last Updated: May 26, 2024