Variant (rsID / SNP)

rs180177112

rs180177112 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PALB2. Location: chromosome 16, position 23,641,089. Clinical significance in the table: Pathogenic/Likely pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

PALB2Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 16:23641089
Cytoband: 16p12.2
HGVS: NM_024675.4(PALB2):c.2386G>T (p.Gly796Ter)
Allele change: Nonsense_G796X

Associated conditions / phenotypes

Familial cancer of breast|Hereditary cancer-predisposing syndrome|Fanconi anemia complementation group N

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.