NM_000232.5(SGCB):c.*847T>C AND Limb-girdle muscular dystrophy, recessive
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 14, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000406619.5
Allele description [Variation Report for NM_000232.5(SGCB):c.*847T>C]
NM_000232.5(SGCB):c.*847T>C
Condition(s)
- Name:
- Limb-girdle muscular dystrophy, recessive
- Identifiers:
- MedGen: CN239352
-
Homo sapiens clone CTB-107G13, complete sequence
Homo sapiens clone CTB-107G13, complete sequencegi|10445387|gnl|WUGSC|CTB-107G13|gb 5064.3|AC005064Nucleotide
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See more...Assertion and evidence details
Last Updated: Jun 29, 2024