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Variant (rsID / SNP)

rs145315496

ERCC4

rs145315496 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ERCC4. Location: chromosome 16, position 14,015,891. Clinical significance in the table: Uncertain significance.

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Reference-table entries

ERCC4Uncertain significance
Clinical significance (as recorded)
Uncertain significance
Variant type
single nucleotide variant
Chromosome / position
16:14015891
Cytoband
16p13.12
HGVS
NM_005236.3(ERCC4):c.211T>C (p.Tyr71His)
Allele change
Missense_Y71H

Associated conditions / phenotypes

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

Public references

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