NM_003002.4(SDHD):c.170-6T>C AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Dec 26, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002240710.14
Allele description [Variation Report for NM_003002.4(SDHD):c.170-6T>C]
NM_003002.4(SDHD):c.170-6T>C
Condition(s)
- Name:
- Carney-Stratakis syndrome
- Synonyms:
- Paraganglioma and gastric stromal sarcoma; Paraganglioma and gastrointestinal stromal tumor; Paraganglioma and GIST; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0011740; MedGen: C1847319; Orphanet: 97286; OMIM: 606864
- 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
- Name:
- Paragangliomas with sensorineural hearing loss
- Identifiers:
- MedGen: C1868633
-
Transcriptomic profiling of antibiotic-resistant Salmonella Heidelberg in the pr...
Transcriptomic profiling of antibiotic-resistant Salmonella Heidelberg in the presence of commensal Escherichia coli of poultry originTranscriptomic profiling of antibiotic-resistant Salmonella Heidelberg in the presence of commensal Escherichia coli of poultry originBioProject
-
Caldimonas brevitalea isolate:qingdao
Caldimonas brevitalea isolate:qingdaoCaldimonas brevitalea isolate:qingdao Genome sequencingBioProject
-
paediatric atopic dermatitis in South Africa
paediatric atopic dermatitis in South Africaatopic dermatitis in South AfricaBioProject
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Oct 13, 2024