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NM_004933.3:c.2324G>A
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NM_004933.3:c.2324G>A
HGVS Expressions
NG_012055.1:g.28280G>A
NM_004933.3:c.2324G>A
NP_004924.1:p.Arg775Gln
NC_000016.10:g.89195034G>A
Associated Genes
Cadherin 15
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Clinvar Clinical Significance
Likely Benign
CTGA Clinical Significance
Likely Benign
Variant Type
Substitution
dbSNP
201368808
Clinvar
377635
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
135900.3.1
United Arab Emirates
1
Likely Benign
Ben-Salem et al. 2016
Baluchi origin Emirati national
135900.3.2
United Arab Emirates
1
Likely Benign
Ben-Salem et al. 2016
Brother of 135900.3.1
135900.3.3
United Arab Emirates
1
Likely Benign
Ben-Salem et al. 2016
Brother of 135900.3.1
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Contributors
Sayeeda Hana: 12.09.2021
Edit History
Sayeeda Hana: 12.09.2021
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