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Variant (rsID / SNP)

rs3136042

ERCC4

rs3136042 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ERCC4. Location: chromosome 16, position 14,014,055. 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
16:14014055
Cytoband
16p13.12
HGVS
NM_005236.3(ERCC4):c.33C>T (p.Ala11=)
Allele change
Synonymous_A11A

Associated conditions / phenotypes

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