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NM_000067.3:c.232+1G>A
Home
NM_000067.3:c.232+1G>A
HGVS Expressions
NG_007287.1:g.6454G>A
NM_000067.3:c.232+1G>A
NP_000058.1:p.?
NC_000008.11:g.85465470G>A
Associated Genes
Carbonic Anhydrase II
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Clinvar Clinical Significance
Pathogenic
CTGA Clinical Significance
Likely Pathogenic, Pathogenic
Variant Type
Substitution
dbSNP
573750741
Clinvar
288909
Epidemiology in the Arab World
View Map
All Countries
Saudi Arabia
United Arab Emirates
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
259730.1.1
Saudi Arabia
2
NA
Pathogenic
Osteopetrosis, Autosomal Recessive 3
Maddirevula et al. 2018
259730.1.2
Saudi Arabia
2
NA
Pathogenic
Osteopetrosis, Autosomal Recessive 3
Maddirevula et al. 2018
Relative of 259730.1.1
259730.1.3
Saudi Arabia
2
NA
Pathogenic
Osteopetrosis, Autosomal Recessive 3
Maddirevula et al. 2018
Relative of 259730.1.1
259730.2
Saudi Arabia
2
NA
Pathogenic
Osteopetrosis, Autosomal Recessive 3
Maddirevula et al. 2018
259730.4
United Arab Emirates
2
Likely Pathogenic
Osteopetrosis, Autosomal Recessive 3
Alabdullatif et al. 2017
Similarly affected sister
259730.G.1
United Arab Emirates
4
Pathogenic
Osteopetrosis, Autosomal Recessive 3
Al-Shamsi et al. 2014
2 Emirati patients
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Contributors
Sayeeda Hana: 23.09.2021
Edit History
Sami Bizzari: 24.01.2024
Asha Deepthi: 05.12.2022
Pratibha Nair: 28.06.2022
Asha Deepthi: 26.10.2021
Sayeeda Hana: 23.09.2021
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