NM_000709.4(BCKDHA):c.1189G>A (p.Ala397Thr) AND Maple syrup urine disease
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 17, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003102660.2
Allele description [Variation Report for NM_000709.4(BCKDHA):c.1189G>A (p.Ala397Thr)]
NM_000709.4(BCKDHA):c.1189G>A (p.Ala397Thr)
Condition(s)
-
Homo sapiens solute carrier family 39 (zinc transporter), member 10 (SLC39A10), ...
Homo sapiens solute carrier family 39 (zinc transporter), member 10 (SLC39A10), mRNAgi|55741749|ref|NM_020342.1|Nucleotide
-
hypothetical protein LEMA_P080810.1 [Plenodomus lingam JN3]
hypothetical protein LEMA_P080810.1 [Plenodomus lingam JN3]gi|312218897|emb|CBX98842.1|Protein
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024