NM_005236.3(ERCC4):c.2591G>A (p.Arg864His) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Dec 5, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000651471.7
Allele description [Variation Report for NM_005236.3(ERCC4):c.2591G>A (p.Arg864His)]
NM_005236.3(ERCC4):c.2591G>A (p.Arg864His)
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
-
alpha-N-acetylglucosaminidase [Candidatus Akkermansia timonensis]
alpha-N-acetylglucosaminidase [Candidatus Akkermansia timonensis]gi|2051318685|gnl|PRJNA715455|J5W56 0|gb|QWO93908.1|Protein
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Last Updated: Sep 29, 2024