NM_000709.4(BCKDHA):c.807C>T (p.Tyr269=) AND Maple syrup urine disease
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jan 31, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000951728.8
Allele description [Variation Report for NM_000709.4(BCKDHA):c.807C>T (p.Tyr269=)]
NM_000709.4(BCKDHA):c.807C>T (p.Tyr269=)
Condition(s)
-
RecName: Full=ATP-dependent RNA helicase VAD1; AltName: Full=Virulence-associate...
RecName: Full=ATP-dependent RNA helicase VAD1; AltName: Full=Virulence-associated DEAD box protein 1gi|74656036|sp|Q58Z64.1|DHH1_CRYNHProtein
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recombination activating protein 1, partial [Nanorana sp. C SH-2019]
recombination activating protein 1, partial [Nanorana sp. C SH-2019]gi|1799646070|gb|QHN69017.1|Protein
-
Nanorana sp. Nsp_2Baj voucher 2Baj recombination activating protein 1 (RAG1) gen...
Nanorana sp. Nsp_2Baj voucher 2Baj recombination activating protein 1 (RAG1) gene, partial cdsgi|1799646091|gb|MN032603.1|Nucleotide
-
Nanorana large subunit ribosomal RNA gene, partial sequence; mitochondrial.
Nanorana large subunit ribosomal RNA gene, partial sequence; mitochondrial.PopSet: 1799734164PopSet
-
indoleamine 2,3-dioxygenase 2 [Mus musculus]
indoleamine 2,3-dioxygenase 2 [Mus musculus]gi|347582671|ref|NP_666061.3|Protein
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See more...Assertion and evidence details
Last Updated: Aug 4, 2024