NM_000124.4(ERCC6):c.2397T>C (p.Leu799=) AND Cockayne syndrome type 2
- 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:
- RCV000337332.5
Allele description [Variation Report for NM_000124.4(ERCC6):c.2397T>C (p.Leu799=)]
NM_000124.4(ERCC6):c.2397T>C (p.Leu799=)
Condition(s)
-
diguanylate cyclase [Methylibium petroleiphilum PM1]
diguanylate cyclase [Methylibium petroleiphilum PM1]gi|124258987|gnl|jgi|Mpe_A1019|gb|A 81.1|Protein
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See more...Assertion and evidence details
Last Updated: Feb 20, 2024