F8 c.3464_3522del ;(p.K1155Rfs*23)

Variant ID: X-154158543-CACCCTTTCCTACTACCACTTTGTTTTTCTCAGACAAGAAATTCTGACCTTCCACAGATT-C

NM_000132.3(F8):c.3464_3522del;(p.K1155Rfs*23)

This variant was identified in 1 publication

View GRCh38 version.



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

Publications:

Adult-onset pulmonary fibrosis caused by mutations in telomerase.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Tsakiri, Kalliopi D KD; Cronkhite, Jennifer T JT; Kuan, Phillip J PJ; Xing, Chao C; Raghu, Ganesh G; Weissler, Jonathan C JC; Rosenblatt, Randall L RL; Shay, Jerry W JW; Garcia, Christine Kim CK
Publication Date: 2007-05-01

Variant appearance in text: F8: 3346_3522del
PubMed Link: 17460043
Variant Present in the following documents:
  • Main text
View BVdb publication page