Variant (rsID / SNP)
rs72466487
rs72466487 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DCTN1. Location: chromosome 2, position 74,605,185. Clinical significance in the table: Pathogenic.
Reference-table entries
DCTN1Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 2:74605185
- Cytoband
- 2p13.1
- HGVS
- NM_004082.5(DCTN1):c.221A>C (p.Gln74Pro)
- Allele change
- Missense_Q74P
Associated conditions / phenotypes
Perry syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.