NM_004168.4(SDHA):c.1534C>T (p.Arg512Ter) AND multiple conditions
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Sep 1, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002502437.2
Allele description [Variation Report for NM_004168.4(SDHA):c.1534C>T (p.Arg512Ter)]
NM_004168.4(SDHA):c.1534C>T (p.Arg512Ter)
Condition(s)
- Name:
- Mitochondrial complex II deficiency, nuclear type 1
- Synonyms:
- Mitochondrial complex II deficiency; Complex 2 mitochondrial respiratory chain deficiency; Succinate CoQ reductase deficiency
- Identifiers:
- MONDO: MONDO:0100294; MedGen: C5700310; Orphanet: 3208; OMIM: 252011
- Name:
- Dilated cardiomyopathy 1GG (CMD1GG)
- Identifiers:
- MONDO: MONDO:0013339; MedGen: C3150898; Orphanet: 154; OMIM: 613642
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"GenomeConnect - Invitae Patient Insights Network"[submitter] AND... (1)
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Taxonomy Links for Nucleotide (Select 1519313481) (1)
Taxonomy
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See more...Assertion and evidence details
Last Updated: May 12, 2024