NM_000709.4(BCKDHA):c.1168-12A>G AND Maple syrup urine disease
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jun 9, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003636109.1
Allele description [Variation Report for NM_000709.4(BCKDHA):c.1168-12A>G]
NM_000709.4(BCKDHA):c.1168-12A>G
Condition(s)
-
Endonuclease V [Roseiflexus sp. RS-1]
Endonuclease V [Roseiflexus sp. RS-1]gi|148568985|gnl|jgi|RoseRS_2758|gb 1130.1|Protein
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See more...Assertion and evidence details
Last Updated: Apr 6, 2024