NM_024301.5(FKRP):c.341C>G (p.Ala114Gly) AND Walker-Warburg congenital muscular dystrophy
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Feb 1, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000227473.17
Allele description [Variation Report for NM_024301.5(FKRP):c.341C>G (p.Ala114Gly)]
NM_024301.5(FKRP):c.341C>G (p.Ala114Gly)
Condition(s)
-
myosin-binding protein H [Mus musculus]
myosin-binding protein H [Mus musculus]gi|56676318|ref|NP_058029.2|Protein
-
OT_ostta13g02520 [Ostreococcus tauri]
OT_ostta13g02520 [Ostreococcus tauri]Gene ID:34946343Gene
-
DLEC1 DLEC1 cilia and flagella associated protein [Homo sapiens]
DLEC1 DLEC1 cilia and flagella associated protein [Homo sapiens]Gene ID:9940Gene
-
Gene Links for Nucleotide (Select 1890274643) (1)
Gene
-
OMIM Links for Nucleotide (Select 1890274643) (1)
OMIM
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See more...Assertion and evidence details
Last Updated: Oct 20, 2024