NM_024301.5(FKRP):c.809G>A (p.Arg270His) AND Autosomal recessive limb-girdle muscular dystrophy type 2I
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Mar 1, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001830242.1
Allele description [Variation Report for NM_024301.5(FKRP):c.809G>A (p.Arg270His)]
NM_024301.5(FKRP):c.809G>A (p.Arg270His)
Condition(s)
- Name:
- Autosomal recessive limb-girdle muscular dystrophy type 2I
- Synonyms:
- MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 5; MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I; MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, FRKP-RELATED; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0011787; MedGen: C1846672; Orphanet: 34515; OMIM: 607155
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71 @JYP24 equals, single dot above less, NOT similar op (0)
MedGen
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79 @jyp24 opminus with four dots, geometric properties succeeds, ... (0)
79 @jyp24 opminus with four dots, geometric properties succeeds, equals opSearchMedGen
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17 AND (@JYP24) NOT congruent with falling dots (0)
BioProject
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62 AND (@JYP24) AND op triangle, equals op parallelop (0)
BioProject
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See more...Assertion and evidence details
Last Updated: Mar 30, 2024