Variant (rsID / SNP)

rs143051731

rs143051731 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DNAJB6. Location: chromosome 7, position 157,175,010. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

DNAJB6Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 7:157175010
Cytoband: 7q36.3
HGVS: NM_058246.4(DNAJB6):c.417G>A (p.Ser139=)
Allele change: Silent

Associated conditions / phenotypes

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.