TG c.2958del ;(p.L987Cfs*16)

Variant ID: 8-133906128-GT-G

NM_003235.4(TG):c.2958del;(p.L987Cfs*16)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Haplotype-resolved de novo assembly of the Vero cell line genome.

Npj Vaccines
Sène, Marie-Angélique MA; Kiesslich, Sascha S; Djambazian, Haig H; Ragoussis, Jiannis J; Xia, Yu Y; Kamen, Amine A AA
Publication Date: 2021-08-20

Variant appearance in text: TG: 2957delT
PubMed Link: 34417462
Variant Present in the following documents:
  • 41541_2021_358_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Biallelic loss-of-function in NRAP is a cause of recessive dilated cardiomyopathy.

Plos One
Koskenvuo, Juha W JW; Saarinen, Inka I; Ahonen, Saija S; Tommiska, Johanna J; Weckström, Sini S; Seppälä, Eija H EH; Tuupanen, Sari S; Kangas-Kontio, Tiia T; Schleit, Jennifer J; Heliö, Krista K; Hathaway, Julie J; Gummesson, Anders A; Dahlberg, Pia P; Ojala, Tiina H TH; Vepsäläinen, Ville V; Kytölä, Ville V; Muona, Mikko M; Sistonen, Johanna J; Salmenperä, Pertteli P; Gentile, Massimiliano M; Paananen, Jussi J; Myllykangas, Samuel S; Alastalo, Tero-Pekka TP; Heliö, Tiina T
Publication Date: 2021

Variant appearance in text: TG: 2958del
PubMed Link: 33534821
Variant Present in the following documents:
  • pone.0245681.s001.xlsx, sheet 1
View BVdb publication page