Variant (rsID / SNP)

rs144716013

rs144716013 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CENPE. Location: chromosome 4, position 104,079,848. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

CENPELikely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 4:104079848
Cytoband: 4q24
HGVS: NM_001813.3(CENPE):c.2797G>A (p.Asp933Asn)
Allele change: Missense_D933N

Associated conditions / phenotypes

Microcephaly 13, 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.