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NM_003482.4:c.1622_1635del
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NM_003482.4:c.1622_1635del
HGVS Expressions
NG_027827.1:g.8264_8277del
NM_003482.4:c.1622_1635del
NP_003473.3:p.Glu541ValfsTer5
NC_000012.12:g.49052052_49052065del
Associated Genes
Lysine-Specific Methyltransferase 2D
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CTGA Clinical Significance
Likely 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
147920.5
United Arab Emirates
1
Likely Pathogenic
Kabuki Syndrome 1
Saleh et al. 2021
de novo mutation
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Contributors
Pratibha Nair: 15.09.2021
Edit History
Rahila Mir: 09.02.2022
Pratibha Nair: 15.09.2021
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