NM_000400.4(ERCC2):c.946C>G (p.Gln316Glu) AND Xeroderma pigmentosum, group D
- Germline classification:
- Uncertain significance (2 submissions)
- Last evaluated:
- May 28, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000990230.7
Allele description [Variation Report for NM_000400.4(ERCC2):c.946C>G (p.Gln316Glu)]
NM_000400.4(ERCC2):c.946C>G (p.Gln316Glu)
Condition(s)
- Name:
- Xeroderma pigmentosum, group D (XPD)
- Synonyms:
- XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D; XERODERMA PIGMENTOSUM IV; XP, GROUP D; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0010212; MedGen: C0268138; OMIM: 278730
Assertion and evidence details
Last Updated: Sep 29, 2024