NM_024301.5(FKRP):c.648G>A (p.Arg216=) AND Walker-Warburg congenital muscular dystrophy
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Nov 2, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002117335.6
Allele description [Variation Report for NM_024301.5(FKRP):c.648G>A (p.Arg216=)]
NM_024301.5(FKRP):c.648G>A (p.Arg216=)
Condition(s)
-
Debaryomyces hansenii CBS767 DEHA2F08338p (DEHA2F08338g), partial mRNA
Debaryomyces hansenii CBS767 DEHA2F08338p (DEHA2F08338g), partial mRNAgi|294658385|ref|XM_460723.2|Nucleotide
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Last Updated: Sep 29, 2024