NM_003742.4(ABCB11):c.2541del (p.Phe847fs) AND not provided
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jul 8, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000814552.5
Allele description [Variation Report for NM_003742.4(ABCB11):c.2541del (p.Phe847fs)]
NM_003742.4(ABCB11):c.2541del (p.Phe847fs)
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: C3661900
Assertion and evidence details
Last Updated: Sep 29, 2024