NM_003002.4(SDHD):c.408T>A (p.Phe136Leu) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 21, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003071313.2
Allele description
NM_003002.4(SDHD):c.408T>A (p.Phe136Leu)
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
-
CBTC2379.fwd NICHD_XGC_tropBone1 Xenopus tropicalis cDNA clone IMAGE:8934717 5',...
CBTC2379.fwd NICHD_XGC_tropBone1 Xenopus tropicalis cDNA clone IMAGE:8934717 5', mRNA sequencegi|126262951|gnl|dbEST|45036615|gb| 063.1|Nucleotide
-
Ostreococcus tauri strain RCC 1115 unplaced genomic scaffold BE221unitig_52, who...
Ostreococcus tauri strain RCC 1115 unplaced genomic scaffold BE221unitig_52, whole genome shotgun sequencegi|1199289469|gb|KZ155812.1||gnl|WG T01|BE221unitig_52Nucleotide
-
Ostreococcus tauri strain RCC 1115 unplaced genomic scaffold BE221unitig_19, who...
Ostreococcus tauri strain RCC 1115 unplaced genomic scaffold BE221unitig_19, whole genome shotgun sequencegi|1199290601|gb|KZ155786.1||gnl|WG T01|BE221unitig_19Nucleotide
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Sep 1, 2024