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Variant (rsID / SNP)

rs121913049

ERCC4

rs121913049 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ERCC4. Location: chromosome 16, position 14,041,848. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

ERCC4Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
16:14041848
Cytoband
16p13.12
HGVS
NM_005236.3(ERCC4):c.2395C>T (p.Arg799Trp)
Allele change
Missense_R799W

Associated conditions / phenotypes

Xeroderma pigmentosum, group F|Cockayne syndrome|Xeroderma pigmentosum, group F|Fanconi anemia complementation group Q|XFE progeroid syndrome|Xeroderma pigmentosum, group F|Fanconi anemia complementation group Q|XFE progeroid syndrome|Hutchinson-Gilford syndrome|Breast carcinoma|Carcinoma of pancreas|Fanconi anemia complementation group Q|Xeroderma pigmentosum

Public references

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