NM_000161.3(GCH1):c.234C>T (p.Ile78=) AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Dec 5, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003790254.2
Allele description [Variation Report for NM_000161.3(GCH1):c.234C>T (p.Ile78=)]
NM_000161.3(GCH1):c.234C>T (p.Ile78=)
Condition(s)
- Name:
- Dystonia 5 (DRD)
- Synonyms:
- Dystonia, progressive, with diurnal variation; Dystonia-Parkinsonism with diurnal fluctuation; Dystonia, DOPA-responsive, with or without hyperphenylalaninemia; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0007495; MedGen: C1851920; Orphanet: 98808; OMIM: 128230
- Name:
- GTP cyclohydrolase I deficiency
- Identifiers:
- MONDO: MONDO:0100184; MedGen: C0268467
-
Homo sapiens death associated protein kinase 2 (DAPK2), mRNA
Homo sapiens death associated protein kinase 2 (DAPK2), mRNAgi|71774012|ref|NM_014326.3|Nucleotide
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Sep 29, 2024