NM_000337.6(SGCD):c.*6223T>A AND Autosomal recessive limb-girdle muscular dystrophy type 2F
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Feb 8, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003233603.1
Allele description [Variation Report for NM_000337.6(SGCD):c.*6223T>A]
NM_000337.6(SGCD):c.*6223T>A
Condition(s)
- Name:
- Autosomal recessive limb-girdle muscular dystrophy type 2F (LGMDR6)
- Synonyms:
- Limb-girdle muscular dystrophy, type 2F; Muscular dystrophy limb-girdle with delta-sarcoglyan deficiency; MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 6
- Identifiers:
- MONDO: MONDO:0011028; MedGen: C1832525; Orphanet: 219; OMIM: 601287
-
Homo sapiens chromosome 2, GRCh38.p14 Primary Assembly
Homo sapiens chromosome 2, GRCh38.p14 Primary Assemblygi|568815596|gnl|ASM:GCF_000001305| |NC_000002.12||gpp|GPC_000001294.1||gnl|NCBI_GENOMES|2Nucleotide
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See more...Assertion and evidence details
Last Updated: Nov 4, 2023