NM_003680.4(YARS1):c.1227C>A (p.Phe409Leu) AND Charcot-Marie-Tooth disease dominant intermediate C
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- May 19, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001040685.5
Allele description [Variation Report for NM_003680.4(YARS1):c.1227C>A (p.Phe409Leu)]
NM_003680.4(YARS1):c.1227C>A (p.Phe409Leu)
Condition(s)
-
RecName: Full=Cohesin subunit SA-2; AltName: Full=SCC3 homolog 2; AltName: Full=...
RecName: Full=Cohesin subunit SA-2; AltName: Full=SCC3 homolog 2; AltName: Full=Stromal antigen 2gi|341942105|sp|O35638.3|STAG2_MOUSProtein
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See more...Assertion and evidence details
Last Updated: Oct 20, 2024