Variant (rsID / SNP)

rs199969138

rs199969138 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NEB. Location: chromosome 2, position 152,566,221. 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: 2:152566221
Cytoband: 2q23.3
HGVS: NM_001164508.2(NEB):c.984C>T (p.Thr328=)
Allele change: Synonymous_T328T

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.