NM_024301.5(FKRP):c.1190C>T (p.Ala397Val) AND Autosomal recessive limb-girdle muscular dystrophy type 2I
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jul 27, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001829425.2
Allele description [Variation Report for NM_024301.5(FKRP):c.1190C>T (p.Ala397Val)]
NM_024301.5(FKRP):c.1190C>T (p.Ala397Val)
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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Mus musculus aspartate beta-hydroxylase domain containing 2 (Asphd2), transcript...
Mus musculus aspartate beta-hydroxylase domain containing 2 (Asphd2), transcript variant 5, mRNAgi|1257171116|ref|NM_001357014.1|Nucleotide
-
Mus musculus retention in endoplasmic reticulum sorting receptor 1 (Rer1), mRNA
Mus musculus retention in endoplasmic reticulum sorting receptor 1 (Rer1), mRNAgi|13385881|ref|NM_026395.1|Nucleotide
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Last Updated: Sep 29, 2024