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Variant (rsID / SNP)

rs375874539

TP53

rs375874539 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TP53. Location: chromosome 17, position 7,577,555. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

TP53Likely pathogenic
Clinical significance (as recorded)
Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
17:7577555
Cytoband
17p13.1
HGVS
NM_000546.6(TP53):c.726C>G (p.Cys242Trp)
Allele change
Synonymous_C110C

Associated conditions / phenotypes

Squamous cell carcinoma of the head and neck|Hepatocellular carcinoma|Lung adenocarcinoma|Glioblastoma|Squamous cell lung carcinoma|B-cell chronic lymphocytic leukemia|Carcinoma of esophagus|Uterine carcinosarcoma|Gastric adenocarcinoma|Transitional cell carcinoma of the bladder|Breast neoplasm

Public references

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