NM_138694.4(PKHD1):c.7912T>A (p.Tyr2638Asn) AND not provided
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Jan 12, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003107870.3
Allele description [Variation Report for NM_138694.4(PKHD1):c.7912T>A (p.Tyr2638Asn)]
NM_138694.4(PKHD1):c.7912T>A (p.Tyr2638Asn)
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: C3661900
Assertion and evidence details
Last Updated: Mar 30, 2024