Variant (rsID / SNP)

rs121913019

rs121913019 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ERCC2. Location: chromosome 19, position 45,858,032. Clinical significance in the table: Pathogenic.

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Reference-table entries

ERCC2Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 19:45858032
Cytoband: 19q13.32
HGVS: NM_000400.4(ERCC2):c.1621A>C (p.Ser541Arg)
Allele change: Missense_S541R

Associated conditions / phenotypes

Xeroderma pigmentosum, group D

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.