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Variant (rsID / SNP)

rs189308547

DNAJC5

rs189308547 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DNAJC5. Location: chromosome 20, position 62,559,773. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

DNAJC5Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
20:62559773
Cytoband
20q13.33
HGVS
NM_025219.3(DNAJC5):c.75C>T (p.Asn25=)
Allele change
Synonymous_N25N

Associated conditions / phenotypes

Seizure|Neuronal ceroid lipofuscinosis

Public references

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