NM_000159.4(GCDH):c.1103C>A (p.Ser368Tyr) AND Glutaric aciduria, type 1
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Apr 28, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001224580.8
Allele description [Variation Report for NM_000159.4(GCDH):c.1103C>A (p.Ser368Tyr)]
NM_000159.4(GCDH):c.1103C>A (p.Ser368Tyr)
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 likely ortholog of mouse organic cation transporter (BOCT), mRNA
Homo sapiens likely ortholog of mouse organic cation transporter (BOCT), mRNAgi|7706145|ref|NM_016609.1|Nucleotide
-
Autophagy-related 4C (yeast) [Mus musculus]
Autophagy-related 4C (yeast) [Mus musculus]gi|37748391|gb|AAH58981.1|Protein
-
Homo sapiens family with sequence similarity 69, member A, mRNA (cDNA clone MGC:...
Homo sapiens family with sequence similarity 69, member A, mRNA (cDNA clone MGC:88347 IMAGE:6498824), complete cdsgi|47683028|gb|BC070342.1|Nucleotide
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Sep 29, 2024