Variant (rsID / SNP)

rs139406455

rs139406455 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DNAJB2. Location: chromosome 2, position 220,146,729. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

DNAJB2Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 2:220146729
Cytoband: 2q35
HGVS: NM_006736.6(DNAJB2):c.298G>A (p.Glu100Lys)
Allele change: Missense_E100K

Associated conditions / phenotypes

Young adult-onset distal hereditary motor neuropathy|Charcot-Marie-Tooth disease

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.