Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs180177100

PALB2

rs180177100 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PALB2. Location: chromosome 16, position 23,646,627. Clinical significance in the table: Pathogenic.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

PALB2Pathogenic
Clinical significance (as recorded)
Pathogenic
Variant type
single nucleotide variant
Chromosome / position
16:23646627
Cytoband
16p12.2
HGVS
NM_024675.4(PALB2):c.1240C>T (p.Arg414Ter)
Allele change
Nonsense_R414X

Associated conditions / phenotypes

Hereditary cancer-predisposing syndrome|Familial cancer of breast|Familial cancer of breast|Fanconi anemia complementation group N|Tracheoesophageal fistula|Pancreatic cancer, susceptibility to, 3|Hereditary breast ovarian cancer syndrome|Malignant tumor of breast

Public references

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