Variant (rsID / SNP)

rs772570523

rs772570523 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to POLH. Location: chromosome 6, position 43,568,829. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

POLHPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 6:43568829
Cytoband: 6p21.1
HGVS: NM_006502.3(POLH):c.764+1G>A
Allele change: Silent

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.