NM_000274.4(OAT):c.1138A>G (p.Ile380Val) AND Ornithine aminotransferase deficiency
- Germline classification:
- Likely benign (3 submissions)
- Last evaluated:
- Jan 18, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001103330.21
Allele description [Variation Report for NM_000274.4(OAT):c.1138A>G (p.Ile380Val)]
NM_000274.4(OAT):c.1138A>G (p.Ile380Val)
Condition(s)
- Name:
- Ornithine aminotransferase deficiency (GACR)
- Synonyms:
- OAT deficiency; Ornithine ketoacid aminotransferase deficiency; Gyrate atrophy; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009796; MedGen: C0018425; Orphanet: 414; OMIM: 258870
-
db23c07.y1 Xenopus laevis oocyte Xenopus laevis cDNA clone XENOPUS_SOURCE_ID: 5'...
db23c07.y1 Xenopus laevis oocyte Xenopus laevis cDNA clone XENOPUS_SOURCE_ID: 5' similar to gb:gb|U15444.1|XLU15444 Xenopus laevis beta 5 tubulin mRNA, complete (XENOPUS), mRNA sequencegi|8006240|gnl|dbEST|4358336|gb|AW8 .1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Oct 13, 2024