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1 records shown · first 60Identification of PKHD1 mutations in Brain, Breast and Rectal tumors by Next Generation DNA Sequencing.
PMID 33716212 · The Gulf journal of oncology · 2021 · 14 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | rs115338476 | “Missense variants such as rs115045643, rs116809571, rs115338476, and rs76895755 are found only in PNET, and a variant rs62406032 in a-CPP, another one rs35445653 in ATRT cases were unique for these tumors, which are not present in other tumors.” | 0.90 | hgvs_regex_v1 |
| gene | PKHD1 | “Identification of PKHD1 mutations in Brain, Breast and Rectal tumors by Next Generation DNA Sequencing.” | 0.98 | hgnc_dict_v1 |
| phenotype | polycystic kidney disease | “INTRODUCTION: It is well established that the PKHD1 mutations are associated with autosomal recessive polycystic kidney disease (ARPKD).” | 0.98 | phenotype_alias_lexicon_v2 |
| variant | rs113562492 | “In phyllodes tumor of breast, two unique missense variants were detected (rs113562492) p. (Met2841Val); and (rs137972270) in p. (Arg589Cys) and these variants are not present in other tumors tested.” | 0.90 | hgvs_regex_v1 |