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NM_130445.4:c.2118dup
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NM_130445.4:c.2118dup
HGVS Expressions
NG_011903.1:g.91093dup
NM_130445.4:c.2118dup
NP_569712.2:p.Gly707ArgfsTer23
NC_000021.9:g.45491275dup
Associated Genes
Collagen, Type XVIII, Alpha-1
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Clinvar Clinical Significance
Pathogenic
CTGA Clinical Significance
Likely Pathogenic
Variant Type
Duplication
dbSNP
775168204
Clinvar
65411
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
267750.1
United Arab Emirates
2
Likely Pathogenic
Knobloch Syndrome 1
Khan. 2020
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Contributors
Asha Deepthi: 18.05.2021
Edit History
Asha Deepthi: 18.05.2021
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