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NM_000260.4:c.1541G>C
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NM_000260.4:c.1541G>C
HGVS Expressions
NG_009086.2:g.39072G>C
NM_000260.4:c.1541G>C
NP_000251.3:p.Ser514Thr
NC_000011.10:g.77162317G>C
Associated Genes
Myosin VIIA
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Clinvar Clinical Significance
Uncertain Significance
CTGA Clinical Significance
Uncertain Significance
Variant Type
Substitution
dbSNP
1232585465
Clinvar
1420150
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
600060.4
United Arab Emirates
1
Uncertain Significance
Deafness, Autosomal Recessive 2
Tlili et al. 2024
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Contributors
Asha Deepthi: 04.09.2024
Edit History
Asha Deepthi: 04.09.2024
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