NM_003002.4(SDHD):c.270G>A (p.Ala90=) AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jul 14, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002230892.14
Allele description [Variation Report for NM_003002.4(SDHD):c.270G>A (p.Ala90=)]
NM_003002.4(SDHD):c.270G>A (p.Ala90=)
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
-
RecName: Full=Flavin reductase (NADPH); Short=FR; AltName: Full=Biliverdin reduc...
RecName: Full=Flavin reductase (NADPH); Short=FR; AltName: Full=Biliverdin reductase B; Short=BVR-B; AltName: Full=Biliverdin-IX beta-reductase; AltName: Full=Green heme-binding protein; Short=GHBP; AltName: Full=NADPH-dependent diaphorase; AltName: Full=NADPH-flavin reductase; Short=FLR; AltName: Full=S-nitroso-CoA-assisted nitrosyltransferase; Short=SNO-CoA-assisted nitrosyltransferasegi|1706870|sp|P30043.3|BLVRB_HUMANProtein
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See more...Assertion and evidence details
Last Updated: Oct 13, 2024