Variant (rsID / SNP)

rs1052555

rs1052555 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ERCC2. Location: chromosome 19, position 45,855,524. Clinical significance in the table: Benign.

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Reference-table entries

ERCC2Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 19:45855524
Cytoband: 19q13.32
HGVS: NM_000400.4(ERCC2):c.2133C>T (p.Asp711=)
Allele change: Synonymous_D711D

Associated conditions / phenotypes

Xeroderma pigmentosum, group D|Trichothiodystrophy 1, photosensitive|Cerebrooculofacioskeletal syndrome 2

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.