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NM_005359.5:c.116_125del
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NM_005359.5:c.116_125del
HGVS Expressions
NG_013013.2:g.84123_84132del
NM_005359.5:c.116_125del
NP_005350.1:p.Ala39ValfsTer3
NC_000018.10:g.51047162_51047171del
Associated Genes
SMAD Family Member 4
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CTGA Clinical Significance
Likely Pathogenic
Variant Type
Deletion
Epidemiology in the Arab World
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United Arab Emirates
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
139210.1
United Arab Emirates
1
Likely Pathogenic
Myhre Syndrome
Saleh et al. 2021
de novo mutation
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Contributors
Pratibha Nair: 09.09.2021
Edit History
Rahila Mir: 09.02.2022
Pratibha Nair: 09.09.2021
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