Variant (rsID / SNP)

rs121434640

rs121434640 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DDB2. Location: chromosome 11, position 47,256,423. Clinical significance in the table: Pathogenic.

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Reference-table entries

DDB2Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 11:47256423
Cytoband: 11p11.2
HGVS: NM_000107.3(DDB2):c.818G>A (p.Arg273His)
Allele change: Missense_R273H

Associated conditions / phenotypes

Xeroderma pigmentosum, group E

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.