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Variant (rsID / SNP)

rs143258862

CENPJ

rs143258862 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CENPJ. Location: chromosome 13, position 25,481,285. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

CENPJConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
13:25481285
Cytoband
13q12.13
HGVS
NM_018451.5(CENPJ):c.1021T>G (p.Tyr341Asp)
Allele change
Missense_Y341D

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.