NM_024301.5(FKRP):c.1240C>A (p.His414Asn) AND Walker-Warburg congenital muscular dystrophy
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jul 8, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001343686.6
Allele description [Variation Report for NM_024301.5(FKRP):c.1240C>A (p.His414Asn)]
NM_024301.5(FKRP):c.1240C>A (p.His414Asn)
Condition(s)
Assertion and evidence details
Last Updated: Mar 5, 2024