NM_000443.4(ABCB4):c.959C>T (p.Ser320Phe) AND ABCB4-related disorder
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Mar 5, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004532350.2
Allele description [Variation Report for NM_000443.4(ABCB4):c.959C>T (p.Ser320Phe)]
NM_000443.4(ABCB4):c.959C>T (p.Ser320Phe)
Condition(s)
- Name:
- ABCB4-related disorder
- Synonyms:
- ABCB4-related disorders; ABCB4-related condition
- Identifiers:
-
Ectopic ovary
Ectopic ovaryMedGen
-
unnamed protein product [Aspergillus oryzae RIB40]
unnamed protein product [Aspergillus oryzae RIB40]gi|169766978|ref|XP_001817960.1|Protein
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See more...Assertion and evidence details
Last Updated: Oct 26, 2024