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NM_001172574.1:c.1349A>C
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NM_001172574.1:c.1349A>C
HGVS Expressions
NG_016619.2:g.43480A>C
NM_001172574.1:c.1349A>C
NP_001166045.1:p.Lys450Thr
NC_000008.11:g.6445071A>C
Associated Genes
Microcephalin 1
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Clinvar Clinical Significance
Benign, Likely Benign, Uncertain Significance
CTGA Clinical Significance
Pathogenic
Variant Type
Substitution
dbSNP
77959215
Clinvar
499746
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
251200.1
United Arab Emirates
1
Pathogenic
Microcephaly, Primary Autosomal Recessive, 1
Saleh et al. 2021
Carries heterozygous deletion of exon 1-...
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Contributors
Pratibha Nair: 10.10.2021
Edit History
Pratibha Nair: 12.01.2023
Pratibha Nair: 10.10.2021
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