GIMAP8 c.1660G>A ;(p.A554T)

Variant ID: 7-150174530-G-A

NM_175571.2(GIMAP8):c.1660G>A;(p.A554T)

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:

Identification of 11 potentially relevant gene mutations involved in growth retardation, intellectual disability, joint contracture, and hepatopathy.

Medicine
Diao, Hongyan H; Zhu, Peng P; Dai, Yong Y; Chen, Wenbiao W
Publication Date: 2018-11

Variant appearance in text: GIMAP8: A554T
PubMed Link: 30431579
Variant Present in the following documents:
  • medi-97-e13117-s004.xlsx, sheet 1
  • medi-97-e13117-s006.xlsx, sheet 1
View BVdb publication page