NM_000156.6(GAMT):c.473G>A (p.Arg158His) AND Deficiency of guanidinoacetate methyltransferase
- Germline classification:
- Uncertain significance (2 submissions)
- Last evaluated:
- Apr 1, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001834813.2
Allele description [Variation Report for NM_000156.6(GAMT):c.473G>A (p.Arg158His)]
NM_000156.6(GAMT):c.473G>A (p.Arg158His)
Condition(s)
-
bifunctional chorismate mutase/prephenate dehydrogenase [Erwinia sp. Ejp617]
bifunctional chorismate mutase/prephenate dehydrogenase [Erwinia sp. Ejp617]gi|310766691|gnl|calsknu|EJP617_196 |ADP11641.1|Protein
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Mimoseae tRNA-Lys (trnK) gene, intron; and similar to maturase K (matK) gene, co...
Mimoseae tRNA-Lys (trnK) gene, intron; and similar to maturase K (matK) gene, complete sequence; plastid.PopSet: 111610306PopSet
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024