NM_007055.4(POLR3A):c.2196C>T (p.Asn732=) AND POLR3A-related disorder
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Aug 30, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004535921.2
Allele description [Variation Report for NM_007055.4(POLR3A):c.2196C>T (p.Asn732=)]
NM_007055.4(POLR3A):c.2196C>T (p.Asn732=)
Condition(s)
- Name:
- POLR3A-related disorder
- Synonyms:
- POLR3A-related disorders; POLR3A-related condition
- Identifiers:
- MONDO: MONDO:0700276; MedGen: CN378587
Assertion and evidence details
Last Updated: Oct 20, 2024