NM_006121.4(KRT1):c.744T>A (p.Asp248Glu) AND Abnormality of the skin
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 1, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000626892.2
Allele description [Variation Report for NM_006121.4(KRT1):c.744T>A (p.Asp248Glu)]
NM_006121.4(KRT1):c.744T>A (p.Asp248Glu)
Condition(s)
- Name:
- Abnormality of the skin
- Identifiers:
- MedGen: C0037268; Human Phenotype Ontology: HP:0000951
Assertion and evidence details
Last Updated: Dec 17, 2022