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NM_138691.2:c.1210T>C
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NM_138691.2:c.1210T>C
HGVS Expressions
NG_008213.1:g.272503T>C
NM_138691.2:c.1210T>C
NP_619636.2:p.Trp404Arg
NC_000009.12:g.72789303T>C
Associated Genes
Transmembrane Channel-Like Protein 1
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CTGA Clinical Significance
Pathogenic
Variant Type
Substitution
dbSNP
878853240
Clinvar
242395
Epidemiology in the Arab World
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Morocco
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
600974.6.1
Morocco
1
Pathogenic
Deafness, Autosomal Recessive 7
Brownstein et al. 2011
600974.6.2
Morocco
1
Pathogenic
Deafness, Autosomal Recessive 7
Brownstein et al. 2011
Brother of 600974.6.1
600974.6.3
Morocco
1
Pathogenic
Deafness, Autosomal Recessive 7
Brownstein et al. 2011
Sister of 600974.6.1
600974.6.4
Morocco
1
Pathogenic
Brownstein et al. 2011
Unaffected father of 600974.6.1
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Contributors
Sayeeda Hana: 11.09.2019
Edit History
Sami Bizzari: 12.09.2022
Rahila Mir: 17.02.2022
Sayeeda Hana: 13.09.2019
Sayeeda Hana: 11.09.2019
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