Variant (rsID / SNP)
rs201189784
rs201189784 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NEB. Location: chromosome 2, position 152,369,315. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
NEBConflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 2:152369315
- Cytoband
- 2q23.3
- HGVS
- NM_001164508.2(NEB):c.23278A>G (p.Asn7760Asp)
- Allele change
- Missense_N7760D
Associated conditions / phenotypes
Nemaline myopathy 2
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.