Variant (rsID / SNP)
rs527997591
rs527997591 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CENPJ. Location: chromosome 13, position 25,458,395. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
CENPJConflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 13:25458395
- Cytoband
- 13q12.12
- HGVS
- NM_018451.5(CENPJ):c.3619-12G>T
- Allele change
- Silent
Associated conditions / phenotypes
Seckel syndrome 4|Microcephaly 6, primary, autosomal recessive
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.