NM_024301.5(FKRP):c.898G>A (p.Val300Met) AND Autosomal recessive limb-girdle muscular dystrophy type 2I
- Germline classification:
- Conflicting interpretations of pathogenicity (2 submissions)
- Last evaluated:
- Feb 28, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000672226.6
Allele description [Variation Report for NM_024301.5(FKRP):c.898G>A (p.Val300Met)]
NM_024301.5(FKRP):c.898G>A (p.Val300Met)
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
-
JGI_CAAJ17606.fwd NIH_XGC_tropBrn2 Xenopus tropicalis cDNA clone IMAGE:7647516 5...
JGI_CAAJ17606.fwd NIH_XGC_tropBrn2 Xenopus tropicalis cDNA clone IMAGE:7647516 5', mRNA sequencegi|58360785|gnl|dbEST|27498373|gb|C 58.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Oct 8, 2024