Variant (rsID / SNP)

rs121434576

rs121434576 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ERCC5. Location: chromosome 13, position 103,520,549. Clinical significance in the table: Uncertain significance.

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Reference-table entries

ERCC5Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 13:103520549
Cytoband: 13q33.1
HGVS: NM_000123.4(ERCC5):c.2620G>A (p.Ala874Thr)
Allele change: Missense_A1328T

Associated conditions / phenotypes

Xeroderma pigmentosum, group G

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.