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Variant (rsID / SNP)

rs142974468

DNAJB6

rs142974468 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DNAJB6. Location: chromosome 7, position 157,208,773. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

DNAJB6Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
7:157208773
Cytoband
7q36.3
HGVS
NM_058246.4(DNAJB6):c.962C>T (p.Ser321Leu)
Allele change
Missense_S206L

Associated conditions / phenotypes

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

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.