PKD1 c.5995G>A ;(p.G1999S)

Variant ID: 16-2159173-C-T

NM_001009944.2(PKD1):c.5995G>A;(p.G1999S)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


A Low-Cost Sequencing Platform for Rapid Genotyping in ADPKD and its Impact on Clinical Care.

Kidney International Reports
Lindemann, Christoph Heinrich CH; Wenzel, Andrea A; Erger, Florian F; Middelmann, Lea L; Borde, Julika J; Hahnen, Eric E; Krauß, Denise D; Oehm, Simon S; Arjune, Sita S; Todorova, Polina P; Burgmaier, Kathrin K; Liebau, Max Christoph MC; Grundmann, Franziska F; Beck, Bodo B BB; Müller, Roman-Ulrich RU
Publication Date: 2023-03

Variant appearance in text: PKD1: 5995G>A; G1999S
PubMed Link: 36938073
Variant Present in the following documents:
  • mmc1.xlsx, sheet 1
View BVdb publication page



Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics
Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,
Publication Date: 2022-12-01

Variant appearance in text: PKD1: G1999S
PubMed Link: 36413997
Variant Present in the following documents:
  • mmc4.xlsx, sheet 1
View BVdb publication page



PKD2 founder mutation is the most common mutation of polycystic kidney disease in Taiwan.

Npj Genomic Medicine
Yu, Chih-Chuan CC; Lee, An-Fu AF; Kohl, Stefen S; Lin, Ming-Yen MY; Cheng, Siao Muk SM; Hung, Chi-Chih CC; Chang, Jer-Ming JM; Chiu, Yi-Wen YW; Hwang, Shang-Jyh SJ; Otto, Edgar A EA; Hildebrandt, Friedhelm F; , ; Hwang, Daw-Yang DY
Publication Date: 2022-07-01

Variant appearance in text: PKD1: 5995G>A; Gly1999Ser
PubMed Link: 35778421
Variant Present in the following documents:
  • Main text
View BVdb publication page



Novel mutations of PKD genes in the Czech population with autosomal dominant polycystic kidney disease.

Bmc Medical Genetics
Obeidova, Lena L; Elisakova, Veronika V; Stekrova, Jitka J; Reiterova, Jana J; Merta, Miroslav M; Tesar, Vladimir V; Losan, Frantisek F; Kohoutova, Milada M
Publication Date: 2014-04-03

Variant appearance in text: PKD1: 5995G>A; Gly1999Ser
PubMed Link: 24694054
Variant Present in the following documents:
  • Main text
  • 1471-2350-15-41.pdf
View BVdb publication page



Identification of gene mutations in autosomal dominant polycystic kidney disease through targeted resequencing.

Journal Of The American Society Of Nephrology : Jasn
Rossetti, Sandro S; Hopp, Katharina K; Sikkink, Robert A RA; Sundsbak, Jamie L JL; Lee, Yean Kit YK; Kubly, Vickie V; Eckloff, Bruce W BW; Ward, Christopher J CJ; Winearls, Christopher G CG; Torres, Vicente E VE; Harris, Peter C PC
Publication Date: 2012-05

Variant appearance in text: PKD1: 5995G>A; Gly1999Ser
PubMed Link: 22383692
Variant Present in the following documents:
  • Main text
View BVdb publication page