NM_006502.3(POLH):c.2028C>T (p.Ala676=) AND Xeroderma pigmentosum
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Dec 19, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002258883.8
Allele description [Variation Report for NM_006502.3(POLH):c.2028C>T (p.Ala676=)]
NM_006502.3(POLH):c.2028C>T (p.Ala676=)
Condition(s)
- Name:
- Xeroderma pigmentosum (XP)
- Synonyms:
- Xeroderma pigmentosa
- Identifiers:
- MONDO: MONDO:0019600; MedGen: C0043346
Assertion and evidence details
Last Updated: Oct 20, 2024