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
-
Saccharomyces cerevisiae S288C rRNA-processing protein PWP1 (PWP1), partial mRNA
Saccharomyces cerevisiae S288C rRNA-processing protein PWP1 (PWP1), partial mRNAgi|296146735|ref|NM_001182083.1|Nucleotide
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cytochrome c oxidase subunit II (mitochondrion) [Acropora tenuis]
cytochrome c oxidase subunit II (mitochondrion) [Acropora tenuis]gi|20065792|gnl|NCBI_MITO|COX2_1604 |NP_612824.1|COX2_16049Protein
-
rRNA-processing protein PWP1 [Saccharomyces cerevisiae S288C]
rRNA-processing protein PWP1 [Saccharomyces cerevisiae S288C]gi|6323225|ref|NP_013297.1|Protein
-
echidna_male_liver
echidna_male_liverbiosample
-
Model organism or animal sample from Tachyglossus aculeatus
Model organism or animal sample from Tachyglossus aculeatusbiosample
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See more...Assertion and evidence details
Last Updated: Jun 17, 2024