Variant (rsID / SNP)

rs41278224

rs41278224 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DNAJC5. Location: chromosome 20, position 62,567,221. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

DNAJC5Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 20:62567221
Cytoband: 20q13.33
HGVS: NM_025219.3(DNAJC5):c.*4300C>T
Allele change: Silent

Associated conditions / phenotypes

Neuronal Ceroid-Lipofuscinosis, Recessive|Ceroid lipofuscinosis, neuronal, 4 (Kufs type)

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.