NM_007055.4(POLR3A):c.2378C>G (p.Ser793Ter) AND not provided
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Oct 23, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001268557.1
Allele description [Variation Report for NM_007055.4(POLR3A):c.2378C>G (p.Ser793Ter)]
NM_007055.4(POLR3A):c.2378C>G (p.Ser793Ter)
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: CN517202
Assertion and evidence details
Last Updated: Apr 23, 2022