NM_020158.4(EXOSC5):c.617T>A (p.Leu206His) AND Cerebellar ataxia, brain abnormalities, and cardiac conduction defects
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Oct 21, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001731249.1
Allele description [Variation Report for NM_020158.4(EXOSC5):c.617T>A (p.Leu206His)]
NM_020158.4(EXOSC5):c.617T>A (p.Leu206His)
Condition(s)
-
09q212 - Chromosomal Variation in Man
09q212 - Chromosomal Variation in Man
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See more...Assertion and evidence details
Last Updated: Jul 15, 2024