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NM_006031.6:c.2984_2994del
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NM_006031.6:c.2984_2994del
HGVS Expressions
NG_008961.2:g.47837_47847del
NM_006031.6:c.2984_2994del
NP_006022.3:p.Ala995GlyfsTer59
NC_000021.9:g.46366958_46366968del
Associated Genes
Pericentrin
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Clinvar Clinical Significance
Pathogenic
CTGA Clinical Significance
Likely Pathogenic
Variant Type
Deletion
dbSNP
587784302
Clinvar
159580
Epidemiology in the Arab World
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Palestine
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
210720.4.1
Palestine
2
NA
Likely Pathogenic
Microcephalic Osteodysplastic Primordial Dwarfism, Type II
Rauch et al. 2008
Patient 'P14' in the publication
210720.4.2
Palestine
1
NA
Rauch et al. 2008
Father of 210720.4.1
210720.4.3
Palestine
1
NA
Rauch et al. 2008
Mother of 210720.4.1
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Contributors
Edit History
Pratibha Nair: 08.11.2022
Asha Deepthi: 10.03.2021
Asha Deepthi: 31.12.2018
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