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Variant (rsID / SNP)

rs1800067

ERCC4

rs1800067 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ERCC4. Location: chromosome 16, position 14,029,033. 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
16:14029033
Cytoband
16p13.12
HGVS
NM_005236.3(ERCC4):c.1244G>A (p.Arg415Gln)
Allele change
Missense_R415Q

Associated conditions / phenotypes

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

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.