Variant (rsID / SNP)

rs76688635

rs76688635 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to EPS8. Location: chromosome 12, position 15,800,074. 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: 12:15800074
Cytoband: 12p12.3
HGVS: NM_004447.6(EPS8):c.1555C>T (p.Arg519Cys)
Allele change: Missense_R519C

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.