NM_001942.4(DSG1):c.2772_2775del (p.Glu924_Arg925insTer) AND Palmoplantar keratoderma i, striate, focal, or diffuse
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 28, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001823043.1
Allele description [Variation Report for NM_001942.4(DSG1):c.2772_2775del (p.Glu924_Arg925insTer)]
NM_001942.4(DSG1):c.2772_2775del (p.Glu924_Arg925insTer)
Condition(s)
- Name:
- Palmoplantar keratoderma i, striate, focal, or diffuse
- Synonyms:
- KERATOSIS PALMOPLANTARIS STRIATA I; KERATODERMA, PALMOPLANTAR, STRIATE FORM I; STRIATE PALMOPLANTAR KERATODERMA I; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0007859; MedGen: C2931122; Orphanet: 369999; Orphanet: 370002; OMIM: 148700
Assertion and evidence details
Last Updated: Jul 15, 2024