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Variant (rsID / SNP)

rs144564120

ERCC2

rs144564120 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ERCC2. Location: chromosome 19, position 45,855,507. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

ERCC2Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
19:45855507
Cytoband
19q13.32
HGVS
NM_000400.4(ERCC2):c.2150C>G (p.Ala717Gly)
Allele change
Missense_A717G

Associated conditions / phenotypes

Mixed Phenotype Acute Leukemia, T/Myeloid, Not Otherwise Specified|ERCC2-Related Disorders|Xeroderma pigmentosum, group D|Trichothiodystrophy 1, photosensitive

Public references

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