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Variant (rsID / SNP)

rs202139330

NEB

rs202139330 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NEB. Location: chromosome 2, position 152,404,881. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

NEBConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
2:152404881
Cytoband
2q23.3
HGVS
NM_001164508.2(NEB):c.20098C>A (p.Leu6700Ile)
Allele change
Missense_L6700I

Associated conditions / phenotypes

Muscular dystrophy|Progressive proximal muscle weakness|Limb pain|Nemaline myopathy 2

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.