NM_004415.4(DSP):c.1696G>A (p.Ala566Thr) AND multiple conditions
- 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:
- RCV000626864.2
Allele description [Variation Report for NM_004415.4(DSP):c.1696G>A (p.Ala566Thr)]
NM_004415.4(DSP):c.1696G>A (p.Ala566Thr)
Condition(s)
- Name:
- Palmoplantar blistering
- Identifiers:
- MedGen: C4024876; Human Phenotype Ontology: HP:0007446
- Name:
- Skin fragility with non-scarring blistering
- Identifiers:
- MedGen: C1851562; Human Phenotype Ontology: HP:0007585
Assertion and evidence details
Last Updated: Jun 2, 2024