Variant (rsID / SNP)

rs185865505

rs185865505 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HERC2. Location: chromosome 15, position 28,412,913. Clinical significance in the table: Uncertain significance.

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Reference-table entries

HERC2Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 15:28412913
Cytoband: 15q13.1
HGVS: NM_004667.6(HERC2):c.10474T>C (p.Ser3492Pro)
Allele change: Missense_S3492P

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.