Variant (rsID / SNP)

rs7336216

rs7336216 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CENPJ. Location: chromosome 13, position 25,486,977. Clinical significance in the table: Benign.

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Reference-table entries

CENPJBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 13:25486977
Cytoband: 13q12.13
HGVS: NM_018451.5(CENPJ):c.187G>C (p.Asp63His)
Allele change: Missense_D63H

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.