NM_000353.3(TAT):c.1242T>C (p.Asn414=) AND Tyrosinemia type II
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Jan 28, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000967701.8
Allele description [Variation Report for NM_000353.3(TAT):c.1242T>C (p.Asn414=)]
NM_000353.3(TAT):c.1242T>C (p.Asn414=)
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
-
Chaperone DnaJ-domain superfamily protein [Arabidopsis thaliana]
Chaperone DnaJ-domain superfamily protein [Arabidopsis thaliana]gi|15233838|ref|NP_192673.1|Protein
-
Triosephosphate isomerase deficiency
Triosephosphate isomerase deficiencyMedGen
-
TPI1 (1)
MedGen
-
adarb2 [Amphiprion ocellaris]
adarb2 [Amphiprion ocellaris]Gene ID:111565378Gene
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See more...Assertion and evidence details
Last Updated: Feb 28, 2024