NM_000183.3(HADHB):c.1336C>T (p.Arg446Trp) AND Mitochondrial trifunctional protein deficiency
- Germline classification:
- Uncertain significance (2 submissions)
- Last evaluated:
- Aug 22, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001136587.6
Allele description [Variation Report for NM_000183.3(HADHB):c.1336C>T (p.Arg446Trp)]
NM_000183.3(HADHB):c.1336C>T (p.Arg446Trp)
Condition(s)
-
Cacnb2 [Cavia porcellus]
Cacnb2 [Cavia porcellus]Gene ID:100192393Gene
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024