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Variant (rsID / SNP)

rs202058504

CENPJ

rs202058504 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CENPJ. Location: chromosome 13, position 25,480,590. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

CENPJPathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
13:25480590
Cytoband
13q12.13
HGVS
NM_018451.5(CENPJ):c.1586C>G (p.Ser529Ter)
Allele change
Nonsense_S529X

Associated conditions / phenotypes

Microcephaly 6, primary, autosomal recessive|Microcephaly 6, primary, autosomal recessive|Seckel syndrome 4

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.