Variant (rsID / SNP)

rs1799793

rs1799793 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ERCC2. Location: chromosome 19, position 45,867,259. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

ERCC2Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 19:45867259
Cytoband: 19q13.32
HGVS: NM_000400.4(ERCC2):c.934G>A (p.Asp312Asn)
Allele change: Missense_D312N

Associated conditions / phenotypes

Xeroderma pigmentosum, group D|Cerebrooculofacioskeletal syndrome 2|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.