NM_000231.3(SGCG):c.300C>T (p.Asp100=) AND Autosomal recessive limb-girdle muscular dystrophy type 2C
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Sep 14, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001427581.7
Allele description [Variation Report for NM_000231.3(SGCG):c.300C>T (p.Asp100=)]
NM_000231.3(SGCG):c.300C>T (p.Asp100=)
Condition(s)
- Name:
- Autosomal recessive limb-girdle muscular dystrophy type 2C (LGMDR5)
- Synonyms:
- Limb-girdle muscular dystrophy with gamma-sarcoglycan deficiency; Muscular dystrophy, Duchenne-like; Duchenne-like muscular dystrophy, autosomal recessive, type 1; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009677; MedGen: C0410173; Orphanet: 353; OMIM: 253700
-
complement C1q tumor necrosis factor-related protein 7 isoform X1 [Homo sapiens]
complement C1q tumor necrosis factor-related protein 7 isoform X1 [Homo sapiens]gi|767929622|ref|XP_011512074.1|Protein
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024