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NM_014694.3:c.938T>C
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NM_014694.3:c.938T>C
HGVS Expressions
NG_009931.1:g.20049T>C
NM_014694.3:c.938T>C
NP_055509.2:p.Met313Thr
NC_000009.12:g.133547212T>C
Associated Genes
ADAMTS-Like Protein 2
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CTGA Clinical Significance
Likely Pathogenic
Variant Type
Substitution
Epidemiology in the Arab World
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All Countries
United Arab Emirates
Yemen
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
231050.1.1
United Arab Emirates; Yem...
2
Likely Pathogenic
Geleophysic Dysplasia 1
Ben-Salem et al. 2013
The patient belongs to an Emirati family...
231050.1.2
United Arab Emirates; Yem...
1
Ben-Salem et al. 2013
Father of 231050.1.1
231050.1.3
United Arab Emirates; Yem...
1
Ben-Salem et al. 2013
Mother of 231050.1.1
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Contributors
Sayeeda Hana: 23.05.2021
Edit History
Rahila Mir: 10.02.2022
Sayeeda Hana: 23.05.2021
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