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GENE - TERM ANNOTATION REPORT

RGD ID: 732968
Species: Homo sapiens
RGD Object: Gene
Symbol: XRCC1
Name: X-ray repair cross complementing 1
Acc ID: HP:0100526
Term: Neoplasm of the lung
Definition: Tumor of the lung.
Definition Source(s): https://orcid.org/0000-0002-0736-9199
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
XRCC1no_associationIAGP 151347439RGDDNA:missense mutation:cds: p.R399Q (human) 
XRCC1onsetIAGP 151347407RGDDNA:missense mutation:exon 10: p.R399Q (human) 
XRCC1severityIAGP 151347172RGDDNA:missense mutation:exon 10: p.R399Q, 28152G>A (human) 
XRCC1severityIAGP 151347422RGDDNA:missense mutation:exon 10: p.R399Q (rs25487) (human) 
XRCC1susceptibilityIAGP 11056906RGDDNA:SNP:exon 10: c.1178G>A, p.R393H (human) 
XRCC1susceptibilityIAGP 151236316RGDDNA:missense mutation:exon 17: c.1804C>A, p.P602T (human) 
XRCC1susceptibilityIAGP 151347416RGDDNA:SNPs, haplotypes:exon 6, exon 7: p.R194W, p.P206P (rs179978, rs915927) (human) 
XRCC1susceptibilityIAGP 151347426RGDDNA:missense mutations:cds: p.R399Q, p.R194W (human) 
XRCC1susceptibilityIAGP 151347450RGDDNA:missense mutation:exon 10: p.R399Q (rs25487) (human) 
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