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Variant (rsID / SNP)

rs113239817

CENPJ

rs113239817 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CENPJ. Location: chromosome 13, position 25,457,372. 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
13:25457372
Cytoband
13q12.12
HGVS
NM_018451.5(CENPJ):c.3960C>T (p.Ser1320=)
Allele change
Synonymous_S1320S

Associated conditions / phenotypes

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.