NM_000124.4(ERCC6):c.3191A>G (p.Asn1064Ser) AND Inborn genetic diseases
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 23, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004021475.1
Allele description [Variation Report for NM_000124.4(ERCC6):c.3191A>G (p.Asn1064Ser)]
NM_000124.4(ERCC6):c.3191A>G (p.Asn1064Ser)
Condition(s)
- Name:
- Inborn genetic diseases
- Identifiers:
- MeSH: D030342; MedGen: C0950123
-
Tyrosine 3-Monooxygenase
Tyrosine 3-MonooxygenaseAn enzyme that catalyzes the conversion of L-tyrosine, tetrahydrobiopterin, and oxygen to 3,4-dihydroxy-L-phenylalanine, dihydrobiopterin, and water. EC 1.14.16.2....<br/>Year introduced: 1995MeSH
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See more...Assertion and evidence details
Last Updated: May 7, 2024