Variant (rsID / SNP)

rs3136056

rs3136056 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ERCC4. Location: chromosome 16, position 14,015,932. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

ERCC4Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 16:14015932
Cytoband: 16p13.12
HGVS: NM_005236.3(ERCC4):c.252C>T (p.Leu84=)
Allele change: Synonymous_L84L

Associated conditions / phenotypes

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

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.