NM_001005498.4(RHBDF2):c.242G>A (p.Arg81His) AND Palmoplantar keratoderma-esophageal carcinoma syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 4, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004574751.1
Allele description [Variation Report for NM_001005498.4(RHBDF2):c.242G>A (p.Arg81His)]
NM_001005498.4(RHBDF2):c.242G>A (p.Arg81His)
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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Penicillium brevicompactum isolate PM20 beta-tubulin (benA) gene, partial cds
Penicillium brevicompactum isolate PM20 beta-tubulin (benA) gene, partial cdsgi|2449181492|gb|ON155601.1|Nucleotide
-
Penicillium crustosum isolate PM23 beta-tubulin (benA) gene, partial cds
Penicillium crustosum isolate PM23 beta-tubulin (benA) gene, partial cdsgi|2449181496|gb|ON155603.1|Nucleotide
-
PREDICTED: Homo sapiens BEN domain containing 5 (BEND5), transcript variant X5, ...
PREDICTED: Homo sapiens BEN domain containing 5 (BEND5), transcript variant X5, mRNAgi|2217270892|ref|XM_047430520.1|Nucleotide
-
Homo sapiens FK506 binding protein 1B, 12.6 kDa, mRNA (cDNA clone IMAGE:4860952)...
Homo sapiens FK506 binding protein 1B, 12.6 kDa, mRNA (cDNA clone IMAGE:4860952), partial cdsgi|29835212|gb|BC050998.1|Nucleotide
-
peptidyl-prolyl cis-trans isomerase FKBP1B isoform X1 [Homo sapiens]
peptidyl-prolyl cis-trans isomerase FKBP1B isoform X1 [Homo sapiens]gi|1034612462|ref|XP_016859085.1|Protein
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See more...Assertion and evidence details
Last Updated: Jun 17, 2024