NM_000531.6(OTC):c.298+5G>C AND Ornithine carbamoyltransferase deficiency
- Germline classification:
- Benign/Likely benign (5 submissions)
- Last evaluated:
- Jan 31, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000378189.23
Allele description [Variation Report for NM_000531.6(OTC):c.298+5G>C]
NM_000531.6(OTC):c.298+5G>C
Condition(s)
- Name:
- Ornithine carbamoyltransferase deficiency (OTCD)
- Synonyms:
- ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO; Ornithine transcarbamylase deficiency; OTC deficiency; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0010703; MedGen: C0268542; Orphanet: 664; OMIM: 311250
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Gene Links for GEO Profiles (Select 121712293) (1)
Gene
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TRPC6 transient receptor potential cation channel subfamily C member 6 [Homo sap...
TRPC6 transient receptor potential cation channel subfamily C member 6 [Homo sapiens]Gene ID:7225Gene
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Profile neighbors for GEO Profiles (Select 121726374) (56)
GEO Profiles
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See more...Assertion and evidence details
Last Updated: Aug 18, 2024