PKD1 c.11269+128C>T

Variant ID: 16-2142353-G-A

NM_001009944.2(PKD1):c.11269+128C>T

This variant was identified in 3 publications

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation
Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-09-08

Variant appearance in text: rs12918803
PubMed Link: 36075891
Variant Present in the following documents:
  • 41439_2022_208_MOESM4_ESM.xlsx, sheet 2
  • 41439_2022_208_MOESM5_ESM.xlsx, sheet 2
View BVdb publication page


Polymorphisms in the mTOR-PI3K-Akt pathway, energy balance-related exposures and colorectal cancer risk in the Netherlands Cohort Study.

Biodata Mining
Simons, Colinda C J M CCJM; Schouten, Leo J LJ; Godschalk, Roger W L RWL; van Schooten, Frederik-Jan FJ; Stoll, Monika M; Van Steen, Kristel K; van den Brandt, Piet A PA; Weijenberg, Matty P MP
Publication Date: 2022-01-10

Variant appearance in text: rs12918803
PubMed Link: 35012583
Variant Present in the following documents:
  • Main text
  • 13040_2021_Article_286.pdf
View BVdb publication page


Polymorphisms in the mTOR-PI3K-Akt pathway, energy balance-related exposures and colorectal cancer risk in the Netherlands Cohort Study.

Biodata Mining
Simons, Colinda C J M CCJM; Schouten, Leo J LJ; Godschalk, Roger W L RWL; van Schooten, Frederik-Jan FJ; Stoll, Monika M; Van Steen, Kristel K; van den Brandt, Piet A PA; Weijenberg, Matty P MP
Publication Date: 2022-01-10

Variant appearance in text: rs12918803
PubMed Link: 35012583
Variant Present in the following documents:
  • Main text
  • 13040_2021_Article_286.pdf
View BVdb publication page


A novel long-range PCR sequencing method for genetic analysis of the entire PKD1 gene.

The Journal Of Molecular Diagnostics : Jmd
Tan, Ying-Cai YC; Michaeel, Alber A; Blumenfeld, Jon J; Donahue, Stephanie S; Parker, Tom T; Levine, Daniel D; Rennert, Hanna H
Publication Date: 2012-07

Variant appearance in text: rs12918803
PubMed Link: 22608885
Variant Present in the following documents:
  • Main text
View BVdb publication page