Variant (rsID / SNP)

rs1800371

rs1800371 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TP53. Location: chromosome 17, position 7,579,548. Clinical significance in the table: Benign.

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Reference-table entries

TP53Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 17:7579548
Cytoband: 17p13.1
HGVS: NM_000546.6(TP53):c.139C>T (p.Pro47Ser)
Allele change: Missense_P8S

Associated conditions / phenotypes

Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome 1|Li-Fraumeni syndrome|Malignant tumor of breast|Hereditary breast ovarian cancer syndrome

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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