NM_000709.4(BCKDHA):c.853+19G>A AND Maple syrup urine disease
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Nov 24, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003077465.3
Allele description [Variation Report for NM_000709.4(BCKDHA):c.853+19G>A]
NM_000709.4(BCKDHA):c.853+19G>A
Condition(s)
-
Homo sapiens FERM domain containing kindlin 3 (FERMT3), transcript variant URP2L...
Homo sapiens FERM domain containing kindlin 3 (FERMT3), transcript variant URP2LF, mRNAgi|1839337252|ref|NM_178443.3|Nucleotide
-
Homo sapiens fermitin family homolog 3 (Drosophila) (FERMT3), transcript variant...
Homo sapiens fermitin family homolog 3 (Drosophila) (FERMT3), transcript variant URP2LF, mRNAgi|41281904|ref|NM_178443.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024