Variant (rsID / SNP)

rs16963255

rs16963255 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ERCC4. Location: chromosome 16, position 14,042,108. Clinical significance in the table: Benign.

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Reference-table entries

ERCC4Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 16:14042108
Cytoband: 16p13.12
HGVS: NM_005236.3(ERCC4):c.2655G>A (p.Thr885=)
Allele change: Synonymous_T885T

Associated conditions / phenotypes

Xeroderma pigmentosum, group F|Xeroderma pigmentosum, group F|Cockayne syndrome|Fanconi anemia complementation group Q

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.