NM_000400.4(ERCC2):c.2142C>G (p.Val714=) AND Xeroderma pigmentosum, group D
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000300493.5
Allele description [Variation Report for NM_000400.4(ERCC2):c.2142C>G (p.Val714=)]
NM_000400.4(ERCC2):c.2142C>G (p.Val714=)
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
-
glutaredoxin [Synechococcus phage ACG-2014d]
glutaredoxin [Synechococcus phage ACG-2014d]gi|723033716|gb|AIX37549.1|Protein
-
Influenza A virus (A/Albany/12/1951(H1N1)) segment 1, complete sequence
Influenza A virus (A/Albany/12/1951(H1N1)) segment 1, complete sequencegi|145279093|gnl|NIGSP|NIGSP-WA-000 2|gb|CY021828.1|Nucleotide
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Last Updated: Aug 4, 2024