NM_024301.5(FKRP):c.1482C>A (p.Ser494Arg) AND Walker-Warburg congenital muscular dystrophy
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jul 19, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001313163.6
Allele description [Variation Report for NM_024301.5(FKRP):c.1482C>A (p.Ser494Arg)]
NM_024301.5(FKRP):c.1482C>A (p.Ser494Arg)
Condition(s)
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cytochrome c oxidase subunit 1, partial (mitochondrion) [Equulites leuciscus]
cytochrome c oxidase subunit 1, partial (mitochondrion) [Equulites leuciscus]gi|387600821|gb|AFJ92900.1|Protein
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Dalatias licha voucher 4M08106DLI.b cytochrome oxidase subunit 1 (COI) gene, par...
Dalatias licha voucher 4M08106DLI.b cytochrome oxidase subunit 1 (COI) gene, partial cds; mitochondrialgi|296747201|gnl|uoguelph|ELAME579- I-5P|gb|GU805203.1|Nucleotide
-
Dalatias licha voucher AN084LOBRPA cytochrome oxidase subunit 1 (COI) gene, part...
Dalatias licha voucher AN084LOBRPA cytochrome oxidase subunit 1 (COI) gene, partial cds; mitochondrialgi|296747103|gnl|uoguelph|ELAME132- I-5P|gb|GU805154.1|Nucleotide
-
Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome
Intellectual disability-obesity-prognathism-eye and skin anomalies syndromeMedGen
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024