NM_000161.3(GCH1):c.145C>G (p.Pro49Ala) AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Nov 6, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002093995.6
Allele description [Variation Report for NM_000161.3(GCH1):c.145C>G (p.Pro49Ala)]
NM_000161.3(GCH1):c.145C>G (p.Pro49Ala)
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
-
PREDICTED: Jatropha curcas uncharacterized LOC105643919 (LOC105643919), mRNA
PREDICTED: Jatropha curcas uncharacterized LOC105643919 (LOC105643919), mRNAgi|1932736854|ref|XM_012229162.3|Nucleotide
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Last Updated: Sep 29, 2024