Variant (rsID / SNP)

rs121913050

rs121913050 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ERCC4. Location: chromosome 16, position 14,020,487. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

ERCC4Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 16:14020487
Cytoband: 16p13.12
HGVS: NM_005236.3(ERCC4):c.458G>C (p.Arg153Pro)
Allele change: Missense_R153P

Associated conditions / phenotypes

XFE progeroid 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.