Variant (rsID / SNP)

rs3802100

rs3802100 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DNAJB6. Location: chromosome 7, position 157,151,234. Clinical significance in the table: Benign.

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Reference-table entries

DNAJB6Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 7:157151234
Cytoband: 7q36.3
HGVS: NM_058246.4(DNAJB6):c.-26-7C>T
Allele change: Silent

Associated conditions / phenotypes

Limb-Girdle Muscular Dystrophy, Dominant|Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)

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.