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Variant (rsID / SNP)

rs151265913

DNAJC5

rs151265913 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DNAJC5. Location: chromosome 20, position 62,560,710. 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
20:62560710
Cytoband
20q13.33
HGVS
NM_025219.3(DNAJC5):c.153G>T (p.Pro51=)
Allele change
Synonymous_P51P

Associated conditions / phenotypes

Neuronal ceroid lipofuscinosis|Ceroid lipofuscinosis, neuronal, 4 (Kufs type)

Public references

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