NM_018136.5:c.5064del - CAGS

NM_018136.5:c.5064del

HGVS Expressions

NG_015867.1:g.47508del
NM_018136.5:c.5064del
NP_060606.3:p.Val1689LeufsTer3
NC_000001.11:g.197104187del

Associated Genes

Abnormal Spindle-Like, Microcephaly-Associated

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Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

dbSNP

Clinvar

Epidemiology in the Arab World

Saudi Arabia

Subject ID	Country of Origin	Allele Count	Allele Frequency	CTGA Clinical Significance	Condition(s)	Reference	Remarks
608716.11.1	Saudi Arabia	2		Pathogenic	Microcephaly 5, Primary, Autosomal Recessive	Shaheen et al. 2019
608716.11.2	Saudi Arabia	2		Pathogenic	Microcephaly 5, Primary, Autosomal Recessive	Shaheen et al. 2019	Sibling of 608716.11.1
608716.11.3	Saudi Arabia	2		Pathogenic	Microcephaly 5, Primary, Autosomal Recessive	Shaheen et al. 2019	Sibling of 608716.11.1

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Contributors

Sayeeda Hana: 15.11.2021

Edit History

Sayeeda Hana: 15.11.2021

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© CAGS 2024. All rights reserved.

© CAGS 2024. All rights reserved.