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NM_001037633.1:c.-197_90delinsCTGTACTTTCTCAGTTCACT
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NM_001037633.1:c.-197_90delinsCTGTACTTTCTCAGTTCACT
HGVS Expressions
NG_008112.1:g.5010_75623delinsCTGTACTTTCTCAGTTCACT
NM_001037633.1:c.-197_90delinsCTGTACTTTCTCAGTTCACT
NP_001032722.1:p.?
NC_000005.10:g.139127754_139198367delinsAGTGAACTGAGAAAGTACAG
Associated Genes
SIL1, S. Cerevisiae, Homolog of
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CTGA Clinical Significance
Likely Pathogenic
Variant Type
Indel
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
248800.3.1
United Arab Emirates
2
Likely Pathogenic
Marinesco-Sjogren Syndrome
Nair et al. 2016
248800.3.2
United Arab Emirates
1
Nair et al. 2016
Father of 248800.3.1
248800.3.3
United Arab Emirates
1
Nair et al. 2016
Mother of 248800.3.1
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Contributors
Rahila Mir: 26.08.2021
Edit History
Pratibha Nair: 29.12.2022
Asha Deepthi: 07.12.2022
Pratibha Nair: 26.08.2021
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