Variant (rsID / SNP)

rs190863815

rs190863815 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ERCC6. Location: chromosome 10, position 50,680,471. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

ERCC6Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 10:50680471
Cytoband: 10q11.23
HGVS: NM_000124.4(ERCC6):c.2875G>T (p.Val959Leu)
Allele change: Missense_V959L

Associated conditions / phenotypes

Cockayne syndrome type 2|Cerebrooculofacioskeletal syndrome 1|Age related macular degeneration 5

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.