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NM_003611.3:c.709_710del
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NM_003611.3:c.709_710del
HGVS Expressions
NG_008872.1:g.17122_17123del
NM_003611.3:c.709_710del
NP_003602.1:p.Lys237ValfsTer2
NC_000023.11:g.13746834_13746835del
Associated Genes
OFD1 Centriole and Centriolar Satellite Protein
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CTGA Clinical Significance
Likely Pathogenic
Variant Type
Deletion
dbSNP
312262845
Epidemiology in the Arab World
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Subject ID
Country of Origin
Allele Count
CTGA Clinical Significance
Condition(s)
Reference
Remarks
311200.3
Arab
1
Likely Pathogenic
Orofaciodigital Syndrome I
Del Giudice et al. 2014
Sporadic case
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Contributors
Asha Deepthi: 25.02.2025
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Asha Deepthi: 25.02.2025
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About Us
CTGA Database
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