NM_024009.3(GJB3):c.-383G>A AND Erythrokeratodermia variabilis et progressiva 1
- 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:
- RCV000363945.5
Allele description [Variation Report for NM_024009.3(GJB3):c.-383G>A]
NM_024009.3(GJB3):c.-383G>A
Condition(s)
- Name:
- Erythrokeratodermia variabilis et progressiva 1 (EKVP1)
- Synonyms:
- ERYTHROKERATODERMIA FIGURATA, CONGENITAL FAMILIAL, IN PLAQUES; ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS; ERYTHROKERATODERMIA, PROGRESSIVE SYMMETRIC
- Identifiers:
- MONDO: MONDO:0033010; MedGen: C4551486; Orphanet: 317; OMIM: 133200
Assertion and evidence details
Last Updated: Jul 29, 2023