NM_003000.3(SDHB):c.670G>C (p.Asp224His) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 3, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003780943.2
Allele description [Variation Report for NM_003000.3(SDHB):c.670G>C (p.Asp224His)]
NM_003000.3(SDHB):c.670G>C (p.Asp224His)
Condition(s)
- Name:
- Gastrointestinal stromal tumor
- Synonyms:
- Gastrointestinal Stromal Sarcoma; Gastrointestinal stromal tumor, somatic; Gastrointestinal stroma tumor
- Identifiers:
- MONDO: MONDO:0011719; MeSH: D046152; MedGen: C0238198; Orphanet: 44890; OMIM: 606764; Human Phenotype Ontology: HP:0100723
- Name:
- Paragangliomas 4 (PPGL4)
- Synonyms:
- CAROTID BODY TUMORS AND MULTIPLE EXTRAADRENAL PHEOCHROMOCYTOMAS; Pheochromocytoma, extraadrenal and cervical paraganglioma; Paragangliomas, hereditary extraadrenal; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0007273; MedGen: C1861848; Orphanet: 29072; OMIM: 115310
- Name:
- Pheochromocytoma
- Synonyms:
- Chromaffinoma; Chromaffin paraganglioma; Chromaffin tumor; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0008233; MedGen: C0031511; Orphanet: 29072; OMIM: 171300; Human Phenotype Ontology: HP:0002666
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Homo sapiens catenin beta 1 (CTNNB1), transcript variant 2, mRNA
Homo sapiens catenin beta 1 (CTNNB1), transcript variant 2, mRNAgi|1675063953|ref|NM_001098209.2|Nucleotide
-
PREDICTED: Canis lupus familiaris solute carrier family 22 member 10 (SLC22A10),...
PREDICTED: Canis lupus familiaris solute carrier family 22 member 10 (SLC22A10), transcript variant X1, mRNAgi|1953311651|ref|XM_038425255.1|Nucleotide
-
solute carrier family 22 member 10 isoform X25 [Canis lupus familiaris]
solute carrier family 22 member 10 isoform X25 [Canis lupus familiaris]gi|1952697454|ref|XP_038310201.1|Protein
-
solute carrier family 22 member 10 isoform X24 [Canis lupus familiaris]
solute carrier family 22 member 10 isoform X24 [Canis lupus familiaris]gi|1239946792|ref|XP_022261479.1|Protein
-
Mus musculus synuclein, beta (Sncb), transcript variant 2, mRNA
Mus musculus synuclein, beta (Sncb), transcript variant 2, mRNAgi|1377224697|ref|NM_001362407.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024