NM_001005498.4(RHBDF2):c.1300T>C (p.Ser434Pro) AND Palmoplantar keratoderma-esophageal carcinoma syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 26, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003463543.1
Allele description [Variation Report for NM_001005498.4(RHBDF2):c.1300T>C (p.Ser434Pro)]
NM_001005498.4(RHBDF2):c.1300T>C (p.Ser434Pro)
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
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See more...Assertion and evidence details
Last Updated: Dec 30, 2023