PKD1 c.7442_7443del ;(p.L2481Rfs*19)

Variant ID: 16-2156445-CCA-C

NM_001009944.2(PKD1):c.7442_7443del;(p.L2481Rfs*19)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Spontaneous Coronary Artery Dissection: Insights on Rare Genetic Variation From Genome Sequencing.

Circulation. Genomic And Precision Medicine
Carss, Keren J KJ; Baranowska, Anna A AA; Armisen, Javier J; Webb, Tom R TR; Hamby, Stephen E SE; Premawardhana, Diluka D; Al-Hussaini, Abtehale A; Wood, Alice A; Wang, Quanli Q; Deevi, Sri V V SVV; Vitsios, Dimitrios D; Lewis, Samuel H SH; Kotecha, Deevia D; Bouatia-Naji, Nabila N; Hesselson, Stephanie S; Iismaa, Siiri E SE; Tarr, Ingrid I; McGrath-Cadell, Lucy L; Muller, David W DW; Dunwoodie, Sally L SL; Fatkin, Diane D; Graham, Robert M RM; Giannoulatou, Eleni E; Samani, Nilesh J NJ; Petrovski, Slavé S; Haefliger, Carolina C; Adlam, David D
Publication Date: 2020-12

Variant appearance in text: PKD1: 7442_7443del; Leu2481fs
PubMed Link: 33125268
Variant Present in the following documents:
  • hcg-13-e003030-s002.pdf
  • hcg-13-e003030-s001.pdf
  • hcg-13-e003030.pdf
View BVdb publication page