Variant (rsID / SNP)
rs112133852
rs112133852 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CENPJ. Location: chromosome 13, position 25,480,943. Clinical significance in the table: Benign/Likely benign.
Reference-table entries
CENPJBenign
- Clinical significance (as recorded)
- Benign/Likely benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 13:25480943
- Cytoband
- 13q12.13
- HGVS
- NM_018451.5(CENPJ):c.1233G>A (p.Pro411=)
- Allele change
- Synonymous_P411P
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.