NM_018979.4:c.2140-2489del - CAGS

NM_018979.4:c.2140-2489del

HGVS Expressions

NG_007984.3:g.120718del
NM_018979.4:c.2140-2489del
NP_001171914.1:p.Pro1017LeufsTer2
NC_000012.12:g.868776del

Associated Genes

Protein Kinase, Lysine-Deficient 1

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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

Clinvar

Epidemiology in the Arab World

Lebanon

Subject ID	Country of Origin	Allele Count	Allele Frequency	CTGA Clinical Significance	Condition(s)	Reference	Remarks
201300.2.1	Lebanon	2		Pathogenic	Neuropathy, Hereditary Sensory and Autonomic, Type II	Riviere et al, 2004	Proband
201300.2.2	Lebanon	2		Pathogenic	Neuropathy, Hereditary Sensory and Autonomic, Type II	Riviere et al, 2004	Paternal uncle of 201300.2.1
201300.2.3	Lebanon	2		Pathogenic	Neuropathy, Hereditary Sensory and Autonomic, Type II	Riviere et al, 2004	Maternal aunt of 201300.2.1
201300.2.4	Lebanon	2		Pathogenic	Neuropathy, Hereditary Sensory and Autonomic, Type II	Riviere et al, 2004	Relative of 201300.2.1
201300.2.5	Lebanon	1		Pathogenic		Riviere et al, 2004	Unaffected father of 201300.2.1
201300.2.6	Lebanon	1		Pathogenic		Riviere et al, 2004	Unaffected mother of 201300.2.1

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Contributors

Sayeeda Hana: 27.02.2020

Edit History

Sami Bizzari: 30.05.2021
Sayeeda Hana: 05.10.2020
Sayeeda Hana: 27.02.2020

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© CAGS 2024. All rights reserved.

© CAGS 2024. All rights reserved.