Variant (rsID / SNP)

rs41306027

rs41306027 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CENPJ. Location: chromosome 13, position 25,486,875. 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: 13:25486875
Cytoband: 13q12.13
HGVS: NM_018451.5(CENPJ):c.289A>G (p.Thr97Ala)
Allele change: Missense_T97A

Associated conditions / phenotypes

Microcephaly 6, primary, autosomal recessive|Seckel syndrome 4

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.