NM_000709.4(BCKDHA):c.853+2T>C AND Maple syrup urine disease
- Germline classification:
- Likely pathogenic (2 submissions)
- Last evaluated:
- Feb 5, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002579160.4
Allele description [Variation Report for NM_000709.4(BCKDHA):c.853+2T>C]
NM_000709.4(BCKDHA):c.853+2T>C
Condition(s)
-
Synechococcus sp. MIT S9220 30S ribosomal protein S21 (rpsU) gene, complete cds
Synechococcus sp. MIT S9220 30S ribosomal protein S21 (rpsU) gene, complete cdsgi|1278327297|gb|KY854083.1|Nucleotide
-
LOC114384679 [Glycine soja]
LOC114384679 [Glycine soja]Gene ID:114384679Gene
-
Gene Links for GEO Profiles (Select 108765167) (5)
Gene
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RAB5B RAB5B, member RAS oncogene family [Homo sapiens]
RAB5B RAB5B, member RAS oncogene family [Homo sapiens]Gene ID:5869Gene
-
Gene Links for GEO Profiles (Select 108762621) (1)
Gene
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024