NM_024599.5(RHBDF2):c.*742A>C AND Palmoplantar keratoderma-esophageal carcinoma syndrome
- Germline classification:
- Benign (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:
- RCV000344587.14
Allele description [Variation Report for NM_024599.5(RHBDF2):c.*742A>C]
NM_024599.5(RHBDF2):c.*742A>C
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: Apr 20, 2024