HR c.3145dup ;(p.Q1049Pfs*96)

Variant ID: 8-21976530-T-TG

NM_005144.4(HR):c.3145dup;(p.Q1049Pfs*96)

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:

A novel single-chain antibody fragment for detection of mannose 6-phosphate-containing proteins: application in mucolipidosis type II patients and mice.

The American Journal Of Pathology
Müller-Loennies, Sven S; Galliciotti, Giovanna G; Kollmann, Katrin K; Glatzel, Markus M; Braulke, Thomas T
Publication Date: 2010-07

Variant appearance in text: HR: 3145insC
PubMed Link: 20472886
Variant Present in the following documents:
  • Main text
View BVdb publication page