Variant (rsID / SNP)
rs141007488
rs141007488 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DNAJC19. Location: chromosome 3, position 180,704,759. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
DNAJC19Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 3:180704759
- Cytoband
- 3q26.33
- HGVS
- NM_145261.4(DNAJC19):c.181C>T (p.Arg61Trp)
- Allele change
- Silent
Associated conditions / phenotypes
3-methylglutaconic aciduria type 5
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.
