NM_001130987.2(DYSF):c.5317+1G>A AND multiple conditions
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Aug 20, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002499105.1
Allele description [Variation Report for NM_001130987.2(DYSF):c.5317+1G>A]
NM_001130987.2(DYSF):c.5317+1G>A
Condition(s)
- Name:
- Miyoshi muscular dystrophy 1 (MMD1)
- Identifiers:
- MONDO: MONDO:0024545; MedGen: C4551973; Orphanet: 45448; OMIM: 254130
-
Homo sapiens peripheral myelin protein 2 (PMP2), transcript variant 1, mRNA
Homo sapiens peripheral myelin protein 2 (PMP2), transcript variant 1, mRNAgi|1143077036|ref|NM_002677.4|Nucleotide
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Last Updated: Sep 29, 2024