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NM_000138.4:c.5117G>A
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NM_000138.4:c.5117G>A
HGVS Expressions
NG_008805.2:g.187600G>A
NM_000138.4:c.5117G>A
NP_000129.3:p.Cys1706Tyr
NC_000015.10:g.48463189C>T
Associated Genes
Fibrillin 1
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CTGA Clinical Significance
Likely Pathogenic
Variant Type
Substitution
Epidemiology in the Arab World
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Algeria
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
231050.3
Algeria
1
Likely Pathogenic
Geleophysic Dysplasia 2
Le Goff et al. 2011
de novo mutation
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Contributors
Pratibha Nair: 06.07.2021
Edit History
Sami Bizzari: 09.01.2023
Rahila Mir: 10.02.2022
Pratibha Nair: 06.07.2021
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