NM_000709.4(BCKDHA):c.1306G>T (p.Glu436Ter) AND Maple syrup urine disease
- Germline classification:
- Pathogenic/Likely pathogenic (2 submissions)
- Last evaluated:
- Oct 7, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001385732.10
Allele description [Variation Report for NM_000709.4(BCKDHA):c.1306G>T (p.Glu436Ter)]
NM_000709.4(BCKDHA):c.1306G>T (p.Glu436Ter)
Condition(s)
-
PTS mannose/fructose/sorbose transporter subunit IIB [Bombilactobacillus bombi]
PTS mannose/fructose/sorbose transporter subunit IIB [Bombilactobacillus bombi]gi|1474735966|gnl|PRJNA480015|DS830 5|gb|AXX65082.1|Protein
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024