Variant (rsID / SNP)

rs199743500

rs199743500 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PALB2. Location: chromosome 16, position 23,641,271. Clinical significance in the table: Uncertain significance.

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Reference-table entries

PALB2Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 16:23641271
Cytoband: 16p12.2
HGVS: NM_024675.4(PALB2):c.2204C>T (p.Pro735Leu)
Allele change: Missense_P735L

Associated conditions / phenotypes

Familial cancer of breast|Hereditary cancer-predisposing 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.