العربية
About Us
News
Fellowships
العربية
Home
About Us
CTGA Database
CTGA Overview
Search Database
Submit to Database
Publications
Research Articles
Genetics Made Easy
Genetic Disorders in the Arab World
Reports
Conferences & Events
News
Gallery
Fellowships
Contact Us
NM_001197104.1:c.3248G>A
Home
NM_001197104.1:c.3248G>A
HGVS Expressions
NG_027813.1:g.45407G>A
NM_001197104.1:c.3248G>A
NP_001184033.1:p.Arg1083Gln
Associated Genes
Lysine-Specific Methyltransferase 2A
Back to search Result
Genomic Location
chr11:118476896
CTGA Clinical Significance
Likely Pathogenic
Variant Type
Substitution
Epidemiology in the Arab World
View Map
Saudi Arabia
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
147920.1
Saudi Arabia
1
Likely Pathogenic
Kabuki Syndrome 1
Monies et al. 2017
Download Table
Contributors
Pratibha Nair: 14.04.2020
Edit History
Rahila Mir: 09.02.2022
Pratibha Nair: 12.09.2021
Pratibha Nair: 14.04.2020
Back to search Result
×
Algeria
Bahrain
Comoros
Country not specified
Djibouti
Egypt
Eritrea
Iraq
Jordan
Kuwait
Lebanon
Libya
Mauritania
Morocco
Oman
Palestine
Qatar
Saudi Arabia
Somalia
Sudan
Syria
Tunisia
United Arab Emirates
Yemen
Arab Countries with reported incidence
Arab Countries without reported incidence
Non-Arab Countries
© CAGS 2024. All rights reserved.