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NM_018418.5:c.322C>T
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NM_018418.5:c.322C>T
HGVS Expressions
NG_021183.1:g.36151C>T
NM_018418.5:c.322C>T
NP_060888.2:p.Arg108Ter
Associated Genes
Spermatogenesis-Associated Protein 7
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Genomic Location
chr14:88416794
Clinvar Clinical Significance
Pathogenic
CTGA Clinical Significance
Pathogenic
Variant Type
Substitution
dbSNP
80044281
Clinvar
1395
Epidemiology in the Arab World
View Map
Saudi Arabia
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
604232.1.1
Saudi Arabia
2
Pathogenic
Leber Congenital Amaurosis 3
Li et al. 2009;
Wang et al. 2009
604232.1.2
Saudi Arabia
2
Pathogenic
Leber Congenital Amaurosis 3
Li et al. 2009;
Wang et al. 2009
Brother of 604232.1.1
604232.1.3
Saudi Arabia
2
Pathogenic
Leber Congenital Amaurosis 3
Li et al. 2009;
Wang et al. 2009
Sister of 604232.1.1
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Contributors
Sayeeda Hana: 30.06.2020
Edit History
Sayeeda Hana: 01.07.2020
Sayeeda Hana: 30.06.2020
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