Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs144938364

CENPJ

rs144938364 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CENPJ. Location: chromosome 13, position 25,479,714. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

CENPJConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
13:25479714
Cytoband
13q12.13
HGVS
NM_018451.5(CENPJ):c.2462C>T (p.Thr821Met)
Allele change
Missense_T821M

Associated conditions / phenotypes

Microcephaly 6, primary, autosomal recessive|Seckel syndrome 1|Seckel syndrome 4

Public references

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