NM_183050.4(BCKDHB):c.119C>T (p.Ala40Val) AND Maple syrup urine disease
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 5, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002480928.1
Allele description [Variation Report for NM_183050.4(BCKDHB):c.119C>T (p.Ala40Val)]
NM_183050.4(BCKDHB):c.119C>T (p.Ala40Val)
Condition(s)
-
Metagenomics of granular activated carbon
Metagenomics of granular activated carbonMetagenomics of granular activated carbon from 7 cities across four provinces in ChinaBioProject
-
607452 (1)
OMIM
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Apr 6, 2024