NM_000159.4(GCDH):c.786C>A (p.Gly262=) AND Glutaric aciduria, type 1
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Feb 4, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001445396.14
Allele description
NM_000159.4(GCDH):c.786C>A (p.Gly262=)
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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UI-H-BI3-ajz-c-07-0-UI.s1 NCI_CGAP_Sub5 Homo sapiens cDNA clone IMAGE:2733325 3'...
UI-H-BI3-ajz-c-07-0-UI.s1 NCI_CGAP_Sub5 Homo sapiens cDNA clone IMAGE:2733325 3', mRNA sequencegi|6986650|gnl|dbEST|3855637|gb|AW4 .1|Nucleotide
-
MAG: Bacteroidetes bacterium CG_4_8_14_3_um_filter_31_14, whole genome shotgun s...
MAG: Bacteroidetes bacterium CG_4_8_14_3_um_filter_31_14, whole genome shotgun sequencing projectgi|1278167291|gb|PFIO00000000.1|PFI 0000Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 16, 2024