NM_000137.4(FAH):c.528C>T (p.Pro176=) AND Tyrosinemia type I
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Feb 6, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001425489.7
Allele description [Variation Report for NM_000137.4(FAH):c.528C>T (p.Pro176=)]
NM_000137.4(FAH):c.528C>T (p.Pro176=)
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
-
Brachytheciaceae ribosomal protein L16 (rpl16) gene, intron; plastid.
Brachytheciaceae ribosomal protein L16 (rpl16) gene, intron; plastid.PopSet: 2802672446PopSet
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024