NM_000137.4(FAH):c.648C>A (p.Ile216=) AND Tyrosinemia type I
- Germline classification:
- Conflicting interpretations of pathogenicity (3 submissions)
- Last evaluated:
- Jan 29, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001080982.14
Allele description [Variation Report for NM_000137.4(FAH):c.648C>A (p.Ile216=)]
NM_000137.4(FAH):c.648C>A (p.Ile216=)
Condition(s)
- Name:
- Tyrosinemia type I (TYRSN1)
- Synonyms:
- Tyrosinemia type 1; Hepatorenal tyrosinemia; FAH deficiency; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0010161; MedGen: C0268490; Orphanet: 882; OMIM: 276700
Assertion and evidence details
Last Updated: Apr 15, 2024