NM_001079802.2(FKTN):c.395del (p.Asn132fs) AND Walker-Warburg congenital muscular dystrophy
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Nov 10, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001953534.4
Allele description [Variation Report for NM_001079802.2(FKTN):c.395del (p.Asn132fs)]
NM_001079802.2(FKTN):c.395del (p.Asn132fs)
Condition(s)
-
NAD(P)-binding Rossmann-fold superfamily protein [Arabidopsis thaliana]
NAD(P)-binding Rossmann-fold superfamily protein [Arabidopsis thaliana]gi|334182302|ref|NP_172027.2|Protein
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024