NM_000429.3(MAT1A):c.816C>T (p.Gly272=) AND Hepatic methionine adenosyltransferase deficiency
- Germline classification:
- Conflicting interpretations of pathogenicity (2 submissions)
- Last evaluated:
- Aug 1, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001103621.8
Allele description [Variation Report for NM_000429.3(MAT1A):c.816C>T (p.Gly272=)]
NM_000429.3(MAT1A):c.816C>T (p.Gly272=)
Condition(s)
- Name:
- Hepatic methionine adenosyltransferase deficiency
- Synonyms:
- MAT I/III DEFICIENCY; Isolated Persistent Hypermethioninemia; Methionine adenosyltransferase deficiency; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009607; MeSH: C564683; MedGen: C0268621; Orphanet: 168598; OMIM: 250850
-
Homo sapiens glutamate-ammonia ligase (GLUL), RefSeqGene on chromosome 1
Homo sapiens glutamate-ammonia ligase (GLUL), RefSeqGene on chromosome 1gi|742670592|ref|NG_013347.2|Nucleotide
-
S41 family peptidase [Shewanella oncorhynchi]
S41 family peptidase [Shewanella oncorhynchi]gi|2566802745|gnl|PRJNA1005235|RA17 50|gb|WMB73103.1|Protein
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024