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NM_000441.1:c.1341+1del
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NM_000441.1:c.1341+1del
HGVS Expressions
NG_008489.1:g.38847del
NM_000441.1:c.1341+1del
Associated Genes
Solute Carrier Family 26, Member 4
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Genomic Location
chr7:107694481
Clinvar Clinical Significance
Pathogenic
CTGA Clinical Significance
Pathogenic
Variant Type
Deletion
dbSNP
397516417
Clinvar
43505
Epidemiology in the Arab World
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Palestine
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
600791.1.1
Palestine
2
Pathogenic
Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct
Shahin et al. 2010
600791.1.2
Palestine
2
Pathogenic
Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct
Shahin et al. 2010
Brother of 600791.1.1
600791.1.3
Palestine
2
Pathogenic
Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct
Shahin et al. 2010
Paternal aunt of 600791.1.1
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Contributors
Sayeeda Hana: 11.08.2020
Edit History
Sayeeda Hana: 05.10.2020
Sayeeda Hana: 11.08.2020
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Algeria
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Palestine
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