NM_024301.5(FKRP):c.1179A>G (p.Val393=) AND Walker-Warburg congenital muscular dystrophy
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Jan 31, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001086801.8
Allele description [Variation Report for NM_024301.5(FKRP):c.1179A>G (p.Val393=)]
NM_024301.5(FKRP):c.1179A>G (p.Val393=)
Condition(s)
-
LOC107986391 [Homo sapiens]
LOC107986391 [Homo sapiens]Gene ID:107986391Gene
-
CCDC81 coiled-coil domain containing 81 [Homo sapiens]
CCDC81 coiled-coil domain containing 81 [Homo sapiens]Gene ID:60494Gene
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See more...Assertion and evidence details
Last Updated: Jul 23, 2024