NM_003742.4(ABCB11):c.2418C>T (p.Gly806=) AND Benign recurrent intrahepatic cholestasis type 2
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Jun 5, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003460265.1
Allele description [Variation Report for NM_003742.4(ABCB11):c.2418C>T (p.Gly806=)]
NM_003742.4(ABCB11):c.2418C>T (p.Gly806=)
Condition(s)
-
Molecular Parasitology
Molecular Parasitology
-
C1GALT1C1 [Alligator sinensis]
C1GALT1C1 [Alligator sinensis]Gene ID:102373998Gene
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Last Updated: Sep 29, 2024