Variant (rsID / SNP)

rs139333406

rs139333406 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NEB. Location: chromosome 2, position 152,347,020. 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: 2:152347020
Cytoband: 2q23.3
HGVS: NM_001164508.2(NEB):c.25163G>A (p.Arg8388His)
Allele change: Missense_R8388H

Associated conditions / phenotypes

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.