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NM_004463.2:c.53del
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NM_004463.2:c.53del
HGVS Expressions
NG_008054.1:g.5787del
NM_004463.2:c.53del
NP_004454.2:p.Pro18ArgfsTer106
NC_000023.11:g.54495382del
Associated Genes
FYVE, RhoGEF, and PH Domain-Containing Protein 1
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CTGA Clinical Significance
Likely Pathogenic, 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
305400.1.1
United Arab Emirates
1
Likely Pathogenic
Aarskog-Scott Syndrome
Hamzeh et al. 2017
305400.1.2
United Arab Emirates
1
Likely Pathogenic
Aarskog-Scott Syndrome
Hamzeh et al. 2017
Brother of 305400.1.1
305400.1.3
United Arab Emirates
1
Pathogenic
Hamzeh et al. 2017
Mother of 305400.1.1
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Contributors
Sayeeda Hana: 17.08.2020
Edit History
Pratibha Nair: 03.01.2023
Pratibha Nair: 23.08.2022
Rahila Mir: 17.02.2022
Sayeeda Hana: 17.08.2020
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