NM_183050.4(BCKDHB):c.478-4T>G AND Maple syrup urine disease
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jan 5, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003637299.2
Allele description [Variation Report for NM_183050.4(BCKDHB):c.478-4T>G]
NM_183050.4(BCKDHB):c.478-4T>G
Condition(s)
-
he04f01.y1 Human Retina cDNA (Un-normalized, unamplified): hd/he Homo sapiens cD...
he04f01.y1 Human Retina cDNA (Un-normalized, unamplified): hd/he Homo sapiens cDNA clone he04f01 5', mRNA sequencegi|21761475|gnl|dbEST|12787077|gb|B 16.1|Nucleotide
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Sep 29, 2024