NM_000391.4(TPP1):c.1397_1408delinsGACACCGA (p.Val466fs) AND not provided
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Sep 7, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001876290.3
Allele description [Variation Report for NM_000391.4(TPP1):c.1397_1408delinsGACACCGA (p.Val466fs)]
NM_000391.4(TPP1):c.1397_1408delinsGACACCGA (p.Val466fs)
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: C3661900
Assertion and evidence details
Last Updated: Sep 29, 2024