Variant (rsID / SNP)

rs114698062

rs114698062 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CENPE. Location: chromosome 4, position 104,070,095. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

CENPEConflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 4:104070095
Cytoband: 4q24
HGVS: NM_001813.3(CENPE):c.3749C>G (p.Thr1250Ser)
Allele change: Missense_T1250S

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.