Variant (rsID / SNP)

rs149278319

rs149278319 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DNAJB6. Location: chromosome 7, position 157,160,110. Clinical significance in the table: Pathogenic.

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Reference-table entries

DNAJB6Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 7:157160110
Cytoband: 7q36.3
HGVS: NM_058246.4(DNAJB6):c.279C>G (p.Phe93Leu)
Allele change: Synonymous_F93F

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.