Variant (rsID / SNP)

rs3212947

rs3212947 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ERCC1. Location: chromosome 19, position 45,924,532. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

ERCC1Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 19:45924532
Cytoband: 19q13.32
HGVS: NM_001983.4(ERCC1):c.225G>A (p.Thr75=)
Allele change: Synonymous_T75T

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.