NM_005236.3(ERCC4):c.2647G>A (p.Glu883Lys) AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jan 12, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000864380.9
Allele description [Variation Report for NM_005236.3(ERCC4):c.2647G>A (p.Glu883Lys)]
NM_005236.3(ERCC4):c.2647G>A (p.Glu883Lys)
Condition(s)
- Name:
- Xeroderma pigmentosum, group F (XPF)
- Synonyms:
- XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP F; XERODERMA PIGMENTOSUM VI; XP, GROUP F; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0010215; MedGen: C0268140; OMIM: 278760
- Name:
- Cockayne syndrome
- Synonyms:
- Cockayne's syndrome; Dwarfism-retinal atrophy-deafness syndrome; Progeria-like syndrome; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0016006; MedGen: C0009207
-
phantom, isoform A [Drosophila melanogaster]
phantom, isoform A [Drosophila melanogaster]gi|18860025|ref|NP_573319.1|Protein
-
Gm23129 predicted gene, 23129 [Mus musculus]
Gm23129 predicted gene, 23129 [Mus musculus]Gene ID:115485986Gene
-
Gm23129 AND (alive[prop]) (1)
Gene
-
gamma-aminobutyric acid receptor subunit rho-1 isoform c [Homo sapiens]
gamma-aminobutyric acid receptor subunit rho-1 isoform c [Homo sapiens]gi|389886549|ref|NP_001254511.1|Protein
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See more...Assertion and evidence details
Last Updated: Oct 13, 2024