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Variant (rsID / SNP)

rs201553266

NEB

rs201553266 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NEB. Location: chromosome 2, position 152,408,252. 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
2:152408252
Cytoband
2q23.3
HGVS
NM_001164508.2(NEB):c.19944G>A (p.Ser6648=)
Allele change
Synonymous_S6648S

Associated conditions / phenotypes

Nemaline myopathy 2|Inborn genetic diseases|Nemaline myopathy|Arthrogryposis multiplex congenita 6

Public references

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