Variant (rsID / SNP)

rs41270303

rs41270303 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HSPB3. Location: chromosome 5, position 53,751,974. Clinical significance in the table: Benign.

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Reference-table entries

HSPB3Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 5:53751974
Cytoband: 5q11.2
HGVS: NM_006308.3(HSPB3):c.355A>G (p.Lys119Glu)
Allele change: Missense_K119E

Associated conditions / phenotypes

Neuronopathy, distal hereditary motor, type 2C

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.