NM_000159.4(GCDH):c.648G>A (p.Ser216=) AND Glutaric aciduria, type 1
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Sep 19, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001413775.8
Allele description [Variation Report for NM_000159.4(GCDH):c.648G>A (p.Ser216=)]
NM_000159.4(GCDH):c.648G>A (p.Ser216=)
Condition(s)
- Name:
- Glutaric aciduria, type 1
- Synonyms:
- GA I; Glutaryl-CoA dehydrogenase deficiency; Glutaric acidemia type I; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009281; MedGen: C0268595; Orphanet: 25; OMIM: 231670
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DEJERINE-SOTTAS SYNDROME, AUTOSOMAL DOMINANT
DEJERINE-SOTTAS SYNDROME, AUTOSOMAL DOMINANTMedGen
-
C4016264[conceptid] (1)
MedGen
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See more...Assertion and evidence details
Last Updated: Jun 9, 2024