NM_001130987.2(DYSF):c.2982C>T (p.Asn994=) AND DYSF-related disorder
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Mar 22, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003927915.2
Allele description [Variation Report for NM_001130987.2(DYSF):c.2982C>T (p.Asn994=)]
NM_001130987.2(DYSF):c.2982C>T (p.Asn994=)
Condition(s)
- Name:
- DYSF-related disorder
- Synonyms:
- DYSF-related condition; DYSF-Related Disorders; DYSF- Related Disorder
- Identifiers:
-
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: Oct 26, 2024