Variant (rsID / SNP)

rs201508087

rs201508087 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CENPJ. Location: chromosome 13, position 25,457,398. Clinical significance in the table: Uncertain significance.

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Reference-table entries

CENPJUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 13:25457398
Cytoband: 13q12.12
HGVS: NM_018451.5(CENPJ):c.3934G>A (p.Gly1312Ser)
Allele change: Missense_G1312S

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.