NM_000137.4(FAH):c.554-6T>C AND Tyrosinemia type I
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Aug 17, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002118975.6
Allele description [Variation Report for NM_000137.4(FAH):c.554-6T>C]
NM_000137.4(FAH):c.554-6T>C
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
-
cullin-4A isoform 3 [Homo sapiens]
cullin-4A isoform 3 [Homo sapiens]gi|511772963|ref|NP_001265443.1|Protein
-
Stomatricha hochbergi mitochondrial partial COI gene for cytochrome oxidase subu...
Stomatricha hochbergi mitochondrial partial COI gene for cytochrome oxidase subunit 1, specimen voucher MHShgi|378781212|emb|FR837902.1|Nucleotide
-
Homo sapiens oncoprotein induced transcript 3 (OIT3), transcript variant 1, mRNA
Homo sapiens oncoprotein induced transcript 3 (OIT3), transcript variant 1, mRNAgi|1519311384|ref|NM_152635.3|Nucleotide
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Sep 29, 2024