HEXA c.1278_1279insA ;(p.Y427Ifs*4)

Variant ID: 15-72638919-A-AT

NM_000520.4(HEXA):c.1278_1279insA;(p.Y427Ifs*4)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Genomic sequencing identifies secondary findings in a cohort of parent study participants.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Thompson, Michelle L ML; Finnila, Candice R CR; Bowling, Kevin M KM; Brothers, Kyle B KB; Neu, Matthew B MB; Amaral, Michelle D MD; Hiatt, Susan M SM; East, Kelly M KM; Gray, David E DE; Lawlor, James M J JMJ; Kelley, Whitley V WV; Lose, Edward J EJ; Rich, Carla A CA; Simmons, Shirley S; Levy, Shawn E SE; Myers, Richard M RM; Barsh, Gregory S GS; Bebin, E Martina EM; Cooper, Gregory M GM
Publication Date: 2018-12

Variant appearance in text: HEXA: Y427Ifs
PubMed Link: 29790872
Variant Present in the following documents:
  • Main text
  • nihms952080.pdf
View BVdb publication page