NM_024301.5(FKRP):c.568C>T (p.Arg190Cys) AND Walker-Warburg congenital muscular dystrophy
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Nov 13, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001979927.4
Allele description [Variation Report for NM_024301.5(FKRP):c.568C>T (p.Arg190Cys)]
NM_024301.5(FKRP):c.568C>T (p.Arg190Cys)
Condition(s)
-
Carboxy-terminal processing protease CtpA precursor [Gimesia aquarii]
Carboxy-terminal processing protease CtpA precursor [Gimesia aquarii]gi|1712559454|gnl|DSMZ|V144x_38850| T98399.1|Protein
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024