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Variant (rsID / SNP)

rs146460133

NEB

rs146460133 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NEB. Location: chromosome 2, position 152,548,792. 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
2:152548792
Cytoband
2q23.3
HGVS
NM_001164508.2(NEB):c.1981C>T (p.Leu661=)
Allele change
Synonymous_L661L

Associated conditions / phenotypes

Nemaline myopathy 2

Public references

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