NM_001005498.4(RHBDF2):c.226C>T (p.Arg76Cys) AND Palmoplantar keratoderma-esophageal carcinoma syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Nov 3, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004574769.1
Allele description [Variation Report for NM_001005498.4(RHBDF2):c.226C>T (p.Arg76Cys)]
NM_001005498.4(RHBDF2):c.226C>T (p.Arg76Cys)
Condition(s)
- Name:
- Palmoplantar keratoderma-esophageal carcinoma syndrome (TOC)
- Synonyms:
- KERATOSIS PALMARIS ET PLANTARIS WITH ESOPHAGEAL CANCER; Howel-Evans syndrome; Keratosis palmoplantaris with esophageal cancer; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0007856; MedGen: C1835664; Orphanet: 2198; OMIM: 148500
Assertion and evidence details
Last Updated: Jun 17, 2024