NM_000023.4(SGCA):c.555C>A (p.Val185=) AND Autosomal recessive limb-girdle muscular dystrophy type 2D
- Germline classification:
- Likely benign (2 submissions)
- Last evaluated:
- Jan 7, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001086806.9
Allele description [Variation Report for NM_000023.4(SGCA):c.555C>A (p.Val185=)]
NM_000023.4(SGCA):c.555C>A (p.Val185=)
Condition(s)
- Name:
- Autosomal recessive limb-girdle muscular dystrophy type 2D (LGMDR3)
- Synonyms:
- ADHALINOPATHY, PRIMARY; Limb-girdle muscular dystrophy, type 2D; Muscular dystrophy limb-girdle with alpha-sarcoglycan; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0011968; MedGen: C2936332; Orphanet: 62; OMIM: 608099
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Penicillium ucsense strain S1M29, whole genome shotgun sequencing project
Penicillium ucsense strain S1M29, whole genome shotgun sequencing projectgi|1913036437|gb|WIWV00000000.1|WIW 0000Nucleotide
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Psl lectin [Pisum sativum]
Psl lectin [Pisum sativum]gi|20804|emb|CAA47011.1|Protein
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Chain D, PEA LECTIN, BETA CHAIN
Chain D, PEA LECTIN, BETA CHAINgi|230615|pdb|2LTN|DProtein
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024