Variant (rsID / SNP)

rs189912759

rs189912759 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NEB. Location: chromosome 2, position 152,417,125. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

NEBBenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 2:152417125
Cytoband: 2q23.3
HGVS: NM_001164508.2(NEB):c.19295A>G (p.Gln6432Arg)
Allele change: Missense_Q6432R

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.