NM_003002.4(SDHD):c.53-8_53-7del AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Dec 3, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002073899.6
Allele description [Variation Report for NM_003002.4(SDHD):c.53-8_53-7del]
NM_003002.4(SDHD):c.53-8_53-7del
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
-
cortactin-binding protein 2 [Nannochloropsis gaditana]
cortactin-binding protein 2 [Nannochloropsis gaditana]gi|585104395|gb|EWM23384.1||gnl|WGS |Naga_101268g1.7023Protein
-
uncharacterized protein SOCE26_016940 [Sorangium cellulosum]
uncharacterized protein SOCE26_016940 [Sorangium cellulosum]gi|1338590150|gnl|PRJNA294368|SOCE2 940|gb|AUX40294.1|Protein
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024