NM_001848.3(COL6A1):c.1056+1G>A AND Sensorimotor neuropathy
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jan 1, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000626814.2
Allele description [Variation Report for NM_001848.3(COL6A1):c.1056+1G>A]
NM_001848.3(COL6A1):c.1056+1G>A
Condition(s)
- Name:
- Sensorimotor neuropathy
- Identifiers:
- MedGen: C1112256; Human Phenotype Ontology: HP:0007141
-
Homo sapiens spermatogenic leucine zipper 1 (SPZ1), mRNA
Homo sapiens spermatogenic leucine zipper 1 (SPZ1), mRNAgi|1653962004|ref|NM_032567.4|Nucleotide
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Last Updated: Sep 29, 2024