Variant (rsID / SNP)

rs75008861

rs75008861 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CENPJ. Location: chromosome 13, position 25,478,083. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

CENPJBenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 13:25478083
Cytoband: 13q12.13
HGVS: NM_018451.5(CENPJ):c.2806A>G (p.Ser936Gly)
Allele change: Missense_S936G

Associated conditions / phenotypes

Seckel syndrome 4|Microcephaly 6, primary, autosomal recessive

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.