NM_003002.4(SDHD):c.431A>T (p.Tyr144Phe) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 2, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001967449.6
Allele description [Variation Report for NM_003002.4(SDHD):c.431A>T (p.Tyr144Phe)]
NM_003002.4(SDHD):c.431A>T (p.Tyr144Phe)
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
-
Mus musculus solute carrier family 4 (anion exchanger), member 4, mRNA (cDNA clo...
Mus musculus solute carrier family 4 (anion exchanger), member 4, mRNA (cDNA clone MGC:171146 IMAGE:40110074), complete cdsgi|159155366|gb|BC148292.2|Nucleotide
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Last Updated: Sep 29, 2024