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NM_001379500.1:c.1733_1742del
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NM_001379500.1:c.1733_1742del
HGVS Expressions
NG_011903.1:g.86710_86719del
NM_001379500.1:c.1733_1742del
NP_001366429.1:p.Ala578GlyfsTer143
NC_000021.9:g.45486892_45486901del
Associated Genes
Collagen, Type XVIII, Alpha-1
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CTGA Clinical Significance
Likely Pathogenic
Variant Type
Deletion
Epidemiology in the Arab World
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All Countries
United Arab Emirates
Yemen
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
267750.2
United Arab Emirates; Yem...
2
Likely Pathogenic
Knobloch Syndrome 1
Khan and Ghazi, 2018
"Double niece" of 222448.2.6
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Contributors
Sayeeda Hana: 15.03.2022
Edit History
Pratibha Nair: 03.01.2023
Precise Support: 18.03.2022
Sayeeda Hana: 15.03.2022
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