NM_000709.4(BCKDHA):c.231C>G (p.Pro77=) AND Maple syrup urine disease
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Feb 10, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001397775.9
Allele description [Variation Report for NM_000709.4(BCKDHA):c.231C>G (p.Pro77=)]
NM_000709.4(BCKDHA):c.231C>G (p.Pro77=)
Condition(s)
-
34190[uid] (1)
Taxonomy
-
protein kinase [Paenibacillus mucilaginosus]
protein kinase [Paenibacillus mucilaginosus]gi|504185477|ref|WP_014372579.1|Protein
-
SRX19513276 (1)
SRA
-
cytochrome b, partial (mitochondrion) [Opsariichthys acutipinnis]
cytochrome b, partial (mitochondrion) [Opsariichthys acutipinnis]gi|1586288326|gb|QBK18674.1|Protein
-
interphotoreceptor retinoid-binding protein, partial [Zacco platypus]
interphotoreceptor retinoid-binding protein, partial [Zacco platypus]gi|2726422769|dbj|BFJ90302.1|Protein
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024