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_005221.6:c.533A>C
Home
NM_005221.6:c.533A>C
HGVS Expressions
NG_009220.1:g.7640A>C
NM_005221.6:c.533A>C
NP_005212.1:p.Gln178Pro
NC_000007.14:g.97022192T>G
Associated Genes
Distal-Less Homeobox 5
Back to search Result
Clinvar Clinical Significance
Pathogenic
CTGA Clinical Significance
Pathogenic
Variant Type
Substitution
dbSNP
387906737
Clinvar
30021
Epidemiology in the Arab World
View Map
Yemen
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
220600.1.1
Yemen
2
NA
Pathogenic
Split-Hand/Foot Malformation 1 with Sensorineural Hearing Loss, Autosomal Recessive
Maddirevula et al. 2018
220600.1.2
Yemen
2
NA
Pathogenic
Split-Hand/Foot Malformation 1 with Sensorineural Hearing Loss, Autosomal Recessive
Maddirevula et al. 2018
Relative of 220600.1.1
Download Table
Contributors
Asha Deepthi: 11.11.2021
Edit History
Asha Deepthi: 11.11.2021
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.