Variant (rsID / SNP)

rs121913018

rs121913018 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ERCC2. Location: chromosome 19, position 45,855,484. Clinical significance in the table: Pathogenic.

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Reference-table entries

ERCC2Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 19:45855484
Cytoband: 19q13.32
HGVS: NM_000400.4(ERCC2):c.2173G>C (p.Ala725Pro)
Allele change: Missense_A725P

Associated conditions / phenotypes

Trichothiodystrophy 1, photosensitive

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.