NM_000337.6(SGCD):c.204A>G (p.Gly68=) AND Autosomal recessive limb-girdle muscular dystrophy type 2F
- Germline classification:
- Likely benign (2 submissions)
- Last evaluated:
- Dec 9, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003101030.3
Allele description [Variation Report for NM_000337.6(SGCD):c.204A>G (p.Gly68=)]
NM_000337.6(SGCD):c.204A>G (p.Gly68=)
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
-
AWPM-19-like family protein [Arabidopsis thaliana]
AWPM-19-like family protein [Arabidopsis thaliana]gi|15239619|ref|NP_197398.1|Protein
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Last Updated: May 1, 2024