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)
-
SRP133584 (429)
SRA
-
Nanorana cf. rarica SH-2019 voucher A2019_13 recombination activating protein 1 ...
Nanorana cf. rarica SH-2019 voucher A2019_13 recombination activating protein 1 (RAG1) gene, partial cdsgi|1799646101|gb|MN032608.1|Nucleotide
-
recombination activating protein 1, partial [Nanorana sp. C SH-2019]
recombination activating protein 1, partial [Nanorana sp. C SH-2019]gi|1799646074|gb|QHN69019.1|Protein
-
Mus musculus FLYWCH family member 2 (Flywch2), transcript variant 1, mRNA
Mus musculus FLYWCH family member 2 (Flywch2), transcript variant 1, mRNAgi|1268743694|ref|NM_029798.4|Nucleotide
-
Nanorana 12S ribosomal RNA gene, partial sequence; mitochondrial.
Nanorana 12S ribosomal RNA gene, partial sequence; mitochondrial.PopSet: 1799733903PopSet
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Last Updated: Aug 4, 2024