NM_000353.3(TAT):c.1090C>T (p.Arg364Trp) AND Tyrosinemia type II
- Germline classification:
- Uncertain significance (2 submissions)
- Last evaluated:
- May 21, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000348549.6
Allele description [Variation Report for NM_000353.3(TAT):c.1090C>T (p.Arg364Trp)]
NM_000353.3(TAT):c.1090C>T (p.Arg364Trp)
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: Apr 9, 2023