NM_024301.5(FKRP):c.893G>C (p.Gly298Ala) AND Autosomal recessive limb-girdle muscular dystrophy type 2I
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 12, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001830367.1
Allele description [Variation Report for NM_024301.5(FKRP):c.893G>C (p.Gly298Ala)]
NM_024301.5(FKRP):c.893G>C (p.Gly298Ala)
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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Synthetic construct Homo sapiens clone IMAGE:100016167, MGC:184154 2-deoxyribose...
Synthetic construct Homo sapiens clone IMAGE:100016167, MGC:184154 2-deoxyribose-5-phosphate aldolase homolog (C. elegans) (DERA) mRNA, encodes complete proteingi|157170049|gb|BC152913.1|Nucleotide
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mastoid process (31232)
PMC
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mastoid process AND 1[s_discriminator] (2)
dbGaP
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EC2BBA23BD08.g1 Xenopus tropicalis xtbs plasmid library Xenopus tropicalis cDNA ...
EC2BBA23BD08.g1 Xenopus tropicalis xtbs plasmid library Xenopus tropicalis cDNA clone xtbs23G16 5', mRNA sequencegi|45876600|gnl|dbEST|22197093|gb|C 04.1|Nucleotide
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Last Updated: May 1, 2024