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NM_139057.3:c.652del
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NM_139057.3:c.652del
HGVS Expressions
NG_016287.2:g.65613del
NM_139057.3:c.652del
NP_620688.2:p.Asp218ThrfsTer41
NC_000015.10:g.100281368del
Associated Genes
A Disintegrin-Like And Metalloproteinase With Thrombospondin Type 1 Motif, 17
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Clinvar Clinical Significance
Pathogenic
CTGA Clinical Significance
Likely Pathogenic
Variant Type
Deletion
dbSNP
1555501030
Clinvar
492940
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
613195.1.1
Saudi Arabia
2
NA
Likely Pathogenic
Weill-Marchesani Syndrome 4
Maddirevula et al. 2018
613195.1.2
Saudi Arabia
2
NA
Likely Pathogenic
Weill-Marchesani Syndrome 4
Maddirevula et al. 2018
Brother of 613195.1.1
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Contributors
Asha Deepthi: 19.10.2021
Edit History
Asha Deepthi: 20.10.2021
Asha Deepthi: 19.10.2021
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