Variant (rsID / SNP)
rs121913026
rs121913026 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ERCC2. Location: chromosome 19, position 45,855,493. Clinical significance in the table: Pathogenic.
Reference-table entries
ERCC2Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 19:45855493
- Cytoband
- 19q13.32
- HGVS
- NM_000400.4(ERCC2):c.2164C>T (p.Arg722Trp)
- Allele change
- Missense_R722W
Associated conditions / phenotypes
Trichothiodystrophy 1, photosensitive|Cerebrooculofacioskeletal syndrome 2|Xeroderma pigmentosum, group D|Trichothiodystrophy 1, photosensitive|Cerebrooculofacioskeletal syndrome 2|ERCC2-related conditions|Trichothiodystrophy|Hypotrichosis simplex
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.