GIMAP8 c.200C>G ;(p.P67R)

Variant ID: 7-150163986-C-G

NM_175571.2(GIMAP8):c.200C>G;(p.P67R)

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: P67R
PubMed Link: 30431579
Variant Present in the following documents:
  • medi-97-e13117-s010.xlsx, sheet 1
  • medi-97-e13117-s012.xlsx, sheet 1
View BVdb publication page