NM_000709.4(BCKDHA):c.216C>G (p.Val72=) AND Maple syrup urine disease
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jan 18, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003524247.1
Allele description [Variation Report for NM_000709.4(BCKDHA):c.216C>G (p.Val72=)]
NM_000709.4(BCKDHA):c.216C>G (p.Val72=)
Condition(s)
-
Homo sapiens SSU72 RNA polymerase II CTD phosphatase homolog (S. cerevisiae), mR...
Homo sapiens SSU72 RNA polymerase II CTD phosphatase homolog (S. cerevisiae), mRNA (cDNA clone MGC:2805 IMAGE:2961422), complete cdsgi|33869783|gb|BC008070.2|Nucleotide
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Homo sapiens SSU72 RNA polymerase II CTD phosphatase homolog (S. cerevisiae), mR...
Homo sapiens SSU72 RNA polymerase II CTD phosphatase homolog (S. cerevisiae), mRNA (cDNA clone IMAGE:4054323)gi|33991108|gb|BC018909.2|Nucleotide
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Last Updated: Apr 6, 2024