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NM_006329.3:c.901C>A
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NM_006329.3:c.901C>A
HGVS Expressions
NG_008254.1:g.71323C>A
NM_006329.3:c.901C>A
NP_006320.2:p.Leu301Met
Associated Genes
Fibulin 5
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Genomic Location
chr14:91881380
Clinvar Clinical Significance
Uncertain Significance
CTGA Clinical Significance
Likely Pathogenic
Variant Type
Substitution
dbSNP
377360782
Clinvar
888450
Epidemiology in the Arab World
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Lebanon
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
219100.2.1
Lebanon
1
Likely Pathogenic
Cutis Laxa, Autosomal Recessive, Type IA
Mégarbané et al, 2009
Homozygous mutation in ELN. Phenotype mo...
219100.2.3
Lebanon
1
Likely Pathogenic
Mégarbané et al, 2009
Mother of 219100.2.1
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Contributors
Pratibha Nair: 13.05.2020
Edit History
Sami Bizzari: 06.06.2021
Pratibha Nair: 13.05.2020
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