HEXA c.64_65delinsCT ;(p.A22L)

Variant ID: 15-72668249-GC-AG

NM_000520.4(HEXA):c.64_65delinsCT;(p.A22L)

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 comprehensive characterization of cis-acting splicing-associated variants in human cancer.

Genome Research
Shiraishi, Yuichi Y; Kataoka, Keisuke K; Chiba, Kenichi K; Okada, Ai A; Kogure, Yasunori Y; Tanaka, Hiroko H; Ogawa, Seishi S; Miyano, Satoru S
Publication Date: 2018-08

Variant appearance in text: HEXA: A22L
PubMed Link: 30012835
Variant Present in the following documents:
  • supp_gr.231951.117_Supplemental_Table_S3.xlsx, sheet 1
View BVdb publication page