Variant (rsID / SNP)
rs13181
rs13181 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ERCC2. Location: chromosome 19, position 45,854,919. Clinical significance in the table: Benign/Likely benign.
Reference-table entries
ERCC2Benign
- Clinical significance (as recorded)
- Benign/Likely benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 19:45854919
- Cytoband
- 19q13.32
- HGVS
- NM_000400.4(ERCC2):c.2251A>C (p.Lys751Gln)
- Allele change
- Missense_K751Q
Associated conditions / phenotypes
Xeroderma pigmentosum, group D|Non-small cell lung carcinoma|Bone osteosarcoma|Trichothiodystrophy 1, photosensitive|Cerebrooculofacioskeletal syndrome 2
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.