Variant (rsID / SNP)
rs200665173
rs200665173 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ERCC2. Location: chromosome 19, position 45,856,019. Clinical significance in the table: Uncertain significance.
Reference-table entries
ERCC2Uncertain significance
- Clinical significance (as recorded)
- Uncertain significance
- Variant type
- single nucleotide variant
- Chromosome / position
- 19:45856019
- Cytoband
- 19q13.32
- HGVS
- NM_000400.4(ERCC2):c.1887G>C (p.Gln629His)
- Allele change
- Missense_Q629H
Associated conditions / phenotypes
Cerebrooculofacioskeletal syndrome 1|Trichothiodystrophy 1, photosensitive|Xeroderma pigmentosum, group D|Cerebrooculofacioskeletal syndrome 2|Trichothiodystrophy 1, photosensitive|Xeroderma pigmentosum, group D|Cerebrooculofacioskeletal syndrome 2|Xeroderma pigmentosum
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.