Variant (rsID / SNP)

rs61756403

rs61756403 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to POLH. Location: chromosome 6, position 43,568,762. Clinical significance in the table: Likely benign.

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Reference-table entries

POLHLikely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 6:43568762
Cytoband: 6p21.1
HGVS: NM_006502.3(POLH):c.698A>G (p.Asn233Ser)
Allele change: Missense_N233S

Associated conditions / phenotypes

Xeroderma pigmentosum variant type

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.