NM_001005498.4(RHBDF2):c.1511C>T (p.Pro504Leu) AND Palmoplantar keratoderma-esophageal carcinoma syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Mar 19, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004573358.1
Allele description [Variation Report for NM_001005498.4(RHBDF2):c.1511C>T (p.Pro504Leu)]
NM_001005498.4(RHBDF2):c.1511C>T (p.Pro504Leu)
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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integrator complex subunit 9 [Ursus arctos]
integrator complex subunit 9 [Ursus arctos]gi|1483803264|ref|XP_026374697.1|Protein
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Homo sapiens mRNA for KIAA1199 protein, complete cds
Homo sapiens mRNA for KIAA1199 protein, complete cdsgi|38564146|dbj|AB103330.1|Nucleotide
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peptidyl-prolyl cis-trans isomerase FKBP1B isoform X1 [Homo sapiens]
peptidyl-prolyl cis-trans isomerase FKBP1B isoform X1 [Homo sapiens]gi|2462571153|ref|XP_054197014.1|Protein
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Rhodobacter sphaeroides strain RSF6 16S ribosomal RNA gene, partial sequence
Rhodobacter sphaeroides strain RSF6 16S ribosomal RNA gene, partial sequencegi|557836200|gb|KF606896.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024