Variant (rsID / SNP)

rs200559481

rs200559481 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NEB. Location: chromosome 2, position 152,359,395. Clinical significance in the table: Uncertain significance.

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Reference-table entries

NEBUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 2:152359395
Cytoband: 2q23.3
HGVS: NM_001164508.2(NEB):c.23840T>G (p.Leu7947Trp)
Allele change: Missense_L7947W

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.