NM_002281.4(KRT81):c.1204G>A (p.Glu402Lys) AND Beaded hair
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jul 1, 1998
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000007931.3
Allele description [Variation Report for NM_002281.4(KRT81):c.1204G>A (p.Glu402Lys)]
NM_002281.4(KRT81):c.1204G>A (p.Glu402Lys)
Condition(s)
- Name:
- Beaded hair (MNLIX)
- Synonyms:
- Monilethrix; Nodose hair
- Identifiers:
- MONDO: MONDO:0008009; MedGen: C0546966; Orphanet: 573; OMIM: 158000; Human Phenotype Ontology: HP:0032470
Assertion and evidence details
Last Updated: Apr 23, 2022