NM_005236.3(ERCC4):c.974-7G>A AND multiple conditions
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Feb 1, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001520608.6
Allele description [Variation Report for NM_005236.3(ERCC4):c.974-7G>A]
NM_005236.3(ERCC4):c.974-7G>A
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
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Napeanthus bracteatus voucher J.L.Clark 8744 internal transcribed spacer 1, 5.8S...
Napeanthus bracteatus voucher J.L.Clark 8744 internal transcribed spacer 1, 5.8S ribosomal RNA gene, and internal transcribed spacer 2, complete sequencegi|73763183|gb|DQ070531.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Mar 10, 2024