NM_000353.3(TAT):c.1042-10C>T AND Tyrosinemia type II
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- May 26, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002213522.7
Allele description [Variation Report for NM_000353.3(TAT):c.1042-10C>T]
NM_000353.3(TAT):c.1042-10C>T
Condition(s)
- Name:
- Tyrosinemia type II (TYRSN2)
- Synonyms:
- Tyrosinemia type 2; Richner Hanhart syndrome; TAT deficiency; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0010160; MedGen: C0268487; Orphanet: 28378; OMIM: 276600
Assertion and evidence details
Last Updated: Feb 28, 2024