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NM_001193466.2:c.808_809delCT
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NM_001193466.2:c.808_809delCT
HGVS Expressions
NG_032784.1:g.59039_59040del
NM_001193466.2:c.808_809delCT
NP_001180395.1:p.Leu270ValfsTer11
NC_000017.11:g.46171335_46171336del
Associated Genes
KAT8 Regulatory NSL Complex, Subunit 1
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Clinvar Clinical Significance
Likely Pathogenic, Pathogenic, Uncertain Significance
CTGA Clinical Significance
Likely Pathogenic
Variant Type
Deletion
dbSNP
551541795
Clinvar
468412
Epidemiology in the Arab World
View Map
Lebanon
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
610443.1
Lebanon
1
Likely Pathogenic
Koolen-De Vries Syndrome
Nair et al. 2018
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Contributors
Pratibha Nair: 15.04.2020
Edit History
Pratibha Nair: 22.11.2022
Pratibha Nair: 10.05.2021
Sayeeda Hana: 27.09.2020
Pratibha Nair: 15.04.2020
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