NM_017849.4(TMEM127):c.637G>A (p.Glu213Lys) AND Hereditary pheochromocytoma-paraganglioma
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Feb 26, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003633640.2
Allele description [Variation Report for NM_017849.4(TMEM127):c.637G>A (p.Glu213Lys)]
NM_017849.4(TMEM127):c.637G>A (p.Glu213Lys)
Condition(s)
- Name:
- Hereditary pheochromocytoma-paraganglioma
- Synonyms:
- Hereditary Paraganglioma-Pheochromocytoma Syndromes; Hereditary Paragangliomas and Pheochromocytomas
- Identifiers:
- MONDO: MONDO:0017366; MedGen: C1708353
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adenosylhomocysteinase [Pseudomonas mendocina ymp]
adenosylhomocysteinase [Pseudomonas mendocina ymp]gi|145573687|gnl|jgi|Pmen_0449|gb|A 19.1|Protein
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paired box gene 4, isoform CRA_b [Homo sapiens]
paired box gene 4, isoform CRA_b [Homo sapiens]gi|119604040|gb|EAW83634.1||gnl|WGS |hCP46529Protein
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paired box gene 4, isoform CRA_a, partial [Homo sapiens]
paired box gene 4, isoform CRA_a, partial [Homo sapiens]gi|119604039|gb|EAW83633.1||gnl|WGS |hCP1904986Protein
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Homo sapiens PAPST1 mRNA for adenosine 3'-phospho 5'-phosphosulfate (PAPS) trans...
Homo sapiens PAPST1 mRNA for adenosine 3'-phospho 5'-phosphosulfate (PAPS) transporter, complete cdsgi|32480470|dbj|AB106538.1|Nucleotide
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Homo sapiens peroxisomal biogenesis factor 5 (PEX5), transcript variant 24, mRNA
Homo sapiens peroxisomal biogenesis factor 5 (PEX5), transcript variant 24, mRNAgi|1789691076|ref|NM_001374647.2|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024