Variant (rsID / SNP)

rs33956726

rs33956726 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to EPS8. Location: chromosome 12, position 15,803,904. Clinical significance in the table: Benign.

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Reference-table entries

EPS8Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 12:15803904
Cytoband: 12p12.3
HGVS: NM_004447.6(EPS8):c.1287T>C (p.Tyr429=)
Allele change: Synonymous_Y429Y

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.