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Variant (rsID / SNP)

rs772254851

DNAJC5

rs772254851 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DNAJC5. Location: chromosome 20, position 62,562,326. 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
20:62562326
Cytoband
20q13.33
HGVS
NM_025219.3(DNAJC5):c.444C>T (p.Phe148=)
Allele change
Synonymous_F148F

Associated conditions / phenotypes

Neuronal Ceroid-Lipofuscinosis, Recessive|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.