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NM_014875.3:c.4475del
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NM_014875.3:c.4475del
HGVS Expressions
NG_042074.1:g.71175del
NM_014875.3:c.4475del
NP_055690.1:p.Asp1492ValfsTer13
NC_000001.11:g.200554560del
Associated Genes
Kinesin Family Member 14
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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
616258.1
United Arab Emirates
2
Likely Pathogenic
Meckel Syndrome 12
Saleh et al. 2021
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Contributors
Pratibha Nair: 13.01.2022
Edit History
Pratibha Nair: 13.01.2022
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