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NM_006907.4:c.616G>A
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NM_006907.4:c.616G>A
HGVS Expressions
NG_023032.1:g.7423G>A
NM_006907.4:c.616G>A
NP_008838.2:p.Gly206Arg
NC_000017.11:g.81934670C>T
Associated Genes
Pyrroline-5-Carboxylate Reductase 1
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Clinvar Clinical Significance
Likely Pathogenic, Pathogenic
CTGA Clinical Significance
Likely Pathogenic
Variant Type
Substitution
dbSNP
121918375
Clinvar
68789
Epidemiology in the Arab World
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Saudi Arabia
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
612940.1
Saudi Arabia
2
NA
Likely Pathogenic
Cutis Laxa, Autosomal Recessive, Type IIB
Maddirevula et al. 2018;
Alazami et al, 2016
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Contributors
Asha Deepthi: 11.02.2022
Edit History
Asha Deepthi: 11.02.2022
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Algeria
Bahrain
Comoros
Country not specified
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Jordan
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Libya
Mauritania
Morocco
Oman
Palestine
Qatar
Saudi Arabia
Somalia
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Tunisia
United Arab Emirates
Yemen
Arab Countries with reported incidence
Arab Countries without reported incidence
Non-Arab Countries
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