NM_000124.4(ERCC6):c.*53T>C AND Cockayne syndrome
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Jun 14, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000344657.5
Allele description [Variation Report for NM_000124.4(ERCC6):c.*53T>C]
NM_000124.4(ERCC6):c.*53T>C
Condition(s)
- 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
-
Mus musculus kelch domain containing 7B (Klhdc7b), mRNA
Mus musculus kelch domain containing 7B (Klhdc7b), mRNAgi|1214146096|ref|NM_001160178.2|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024