Variant (rsID / SNP)

rs34127289

rs34127289 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DNAJB2. Location: chromosome 2, position 220,149,542. Clinical significance in the table: Benign.

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Reference-table entries

DNAJB2Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 2:220149542
Cytoband: 2q35
HGVS: NM_006736.6(DNAJB2):c.808G>C (p.Gly270Arg)
Allele change: Missense_G270R

Associated conditions / phenotypes

Young adult-onset distal hereditary motor neuropathy

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.