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NM_018136.5:c.3506_3507del
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NM_018136.5:c.3506_3507del
HGVS Expressions
NG_015867.1:g.29215_29216del
NM_018136.5:c.3506_3507del
NP_060606.3:p.Val1169GlyfsTer15
NC_000001.11:g.197122481_197122482del
Associated Genes
Abnormal Spindle-Like, Microcephaly-Associated
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Clinvar Clinical Significance
Pathogenic
CTGA Clinical Significance
Pathogenic
Variant Type
Deletion
dbSNP
769818500
Clinvar
434415
Epidemiology in the Arab World
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Saudi Arabia
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
608716.9
Saudi Arabia
2
Pathogenic
Microcephaly 5, Primary, Autosomal Recessive
Shaheen et al. 2019
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Contributors
Sayeeda Hana: 15.11.2021
Edit History
Sayeeda Hana: 15.11.2021
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