Variant (rsID / SNP)

rs1047768

rs1047768 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ERCC5. Location: chromosome 13, position 103,504,517. Clinical significance in the table: Benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

ERCC5Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 13:103504517
Cytoband: 13q33.1
HGVS: NM_000123.4(ERCC5):c.138T>C (p.His46=)
Allele change: Synonymous_H500H

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.