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NM_001164730.2:c.324+1_324+7delinsAC
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NM_001164730.2:c.324+1_324+7delinsAC
HGVS Expressions
NG_013037.1:g.88391_88397delinsAC
NM_001164730.2:c.324+1_324+7delinsAC
Associated Genes
Receptor Expression-Enhancing Protein 1
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Genomic Location
chr2:86254687-86254693
Clinvar Clinical Significance
Likely Pathogenic
CTGA Clinical Significance
Likely Pathogenic
Variant Type
Indel
dbSNP
869320621
Clinvar
217864
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
604320.4.1
Lebanon
2
Likely Pathogenic
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1
Schottmann et al. 2015
604320.4.2
Lebanon
1
Likely Pathogenic
Schottmann et al. 2015
Father of 604320.4.1
604320.4.3
Lebanon
1
Likely Pathogenic
Schottmann et al. 2015
Mother of 604320.4.1
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Contributors
Pratibha Nair: 16.08.2020
Edit History
Sayeeda Hana: 05.10.2020
Pratibha Nair: 16.08.2020
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