Variant (rsID / SNP)

rs34061299

rs34061299 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ERCC5. Location: chromosome 13, position 103,514,444. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

ERCC5Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 13:103514444
Cytoband: 13q33.1
HGVS: NM_000123.4(ERCC5):c.945C>T (p.His315=)
Allele change: Synonymous_H769H

Associated conditions / phenotypes

Xeroderma pigmentosum, group G|Hereditary cancer-predisposing syndrome

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.