Variant (rsID / SNP)

rs201088712

rs201088712 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CENPJ. Location: chromosome 13, position 25,480,913. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

CENPJLikely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 13:25480913
Cytoband: 13q12.13
HGVS: NM_018451.5(CENPJ):c.1263G>C (p.Gln421His)
Allele change: Missense_Q421H

Associated conditions / phenotypes

Seckel syndrome 4

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.