Variant (rsID / SNP)

rs549794342

rs549794342 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NEB. Location: chromosome 2, position 152,357,937. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

NEBPathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 2:152357937
Cytoband: 2q23.3
HGVS: NM_001164508.2(NEB):c.23989C>T (p.Arg7997Ter)
Allele change: Nonsense_R7997X

Associated conditions / phenotypes

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

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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