NM_000231.3(SGCG):c.*13C>T AND Sarcoglycanopathy
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Jan 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001114521.4
Allele description [Variation Report for NM_000231.3(SGCG):c.*13C>T]
NM_000231.3(SGCG):c.*13C>T
Condition(s)
- Name:
- Sarcoglycanopathy
- Identifiers:
- MONDO: MONDO:0016140; MedGen: C2936331
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G-protein coupled receptor family C group 5 member D isoform 2 [Mus musculus]
G-protein coupled receptor family C group 5 member D isoform 2 [Mus musculus]gi|16716417|ref|NP_444348.1|Protein
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Mus musculus aquaporin 7 (Aqp7), transcript variant 2, mRNA
Mus musculus aquaporin 7 (Aqp7), transcript variant 2, mRNAgi|2719985005|ref|NM_007473.5|Nucleotide
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Homologene neighbors for GEO Profiles (Select 122074851) (0)
GEO Profiles
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Profile neighbors for GEO Profiles (Select 122095929) (200)
GEO Profiles
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Profile neighbors for GEO Profiles (Select 122072650) (200)
GEO Profiles
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See more...Assertion and evidence details
Last Updated: Jun 29, 2024