NM_000159.4(GCDH):c.495G>T (p.Leu165=) AND Glutaric aciduria, type 1
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jul 19, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001393414.7
Allele description [Variation Report for NM_000159.4(GCDH):c.495G>T (p.Leu165=)]
NM_000159.4(GCDH):c.495G>T (p.Leu165=)
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
-
Homo sapiens RPGRIP1 like (RPGRIP1L), transcript variant 5, mRNA
Homo sapiens RPGRIP1 like (RPGRIP1L), transcript variant 5, mRNAgi|1674986233|ref|NM_001328423.2|Nucleotide
-
Homo sapiens myosin IG, mRNA (cDNA clone MGC:142104 IMAGE:8322596), complete cds
Homo sapiens myosin IG, mRNA (cDNA clone MGC:142104 IMAGE:8322596), complete cdsgi|109731068|gb|BC113544.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024