NM_000143.4(FH):c.553_554insTG (p.Gln185fs) AND Fumarase deficiency
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Oct 18, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003470388.1
Allele description [Variation Report for NM_000143.4(FH):c.553_554insTG (p.Gln185fs)]
NM_000143.4(FH):c.553_554insTG (p.Gln185fs)
Condition(s)
Assertion and evidence details
Last Updated: Oct 20, 2024