NM_000709.4(BCKDHA):c.159G>C (p.Gln53His) AND Maple syrup urine disease
- Germline classification:
- Conflicting interpretations of pathogenicity (3 submissions)
- Last evaluated:
- Jan 17, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000363085.17
Allele description [Variation Report for NM_000709.4(BCKDHA):c.159G>C (p.Gln53His)]
NM_000709.4(BCKDHA):c.159G>C (p.Gln53His)
Condition(s)
-
JGI_CAAK8599.rev NIH_XGC_tropBrn3 Xenopus tropicalis cDNA clone IMAGE:7659471 3'...
JGI_CAAK8599.rev NIH_XGC_tropBrn3 Xenopus tropicalis cDNA clone IMAGE:7659471 3', mRNA sequencegi|71605487|gnl|dbEST|30435859|gb|C 88.2|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024