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NM_001145320.1:c.338G>T
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NM_001145320.1:c.338G>T
HGVS Expressions
NG_009931.1:g.12636G>T
NM_001145320.1:c.338G>T
NP_001138792.1:p.Arg113Leu
NC_000009.12:g.133539799G>T
Associated Genes
ADAMTS-Like Protein 2
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CTGA Clinical Significance
Likely Pathogenic
Variant Type
Substitution
dbSNP
113994122
Epidemiology in the Arab World
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Saudi Arabia
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
231050.5.1
Saudi Arabia
2
NA
Likely Pathogenic
Geleophysic Dysplasia 1
Maddirevula et al. 2018
Novel variant
231050.5.2
Saudi Arabia
2
NA
Likely Pathogenic
Geleophysic Dysplasia 1
Maddirevula et al. 2018
Brother of 231050.5.1
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Contributors
Asha Deepthi: 20.10.2021
Edit History
Rahila Mir: 09.02.2022
Asha Deepthi: 20.10.2021
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