NM_001814.4:c.815G>C - CAGS

NM_001814.4:c.815G>C

HGVS Expressions

NG_007952.1:g.46567G>C
NM_001814.4:c.815G>C
NP_001805.3:p.Arg272Pro
NC_000011.10:g.88296207C>G

Associated Genes

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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Likely Pathogenic, Pathogenic

Variant Type

Substitution

dbSNP

Clinvar

Epidemiology in the Arab World

Subject ID	Country of Origin	Allele Count	Allele Frequency	CTGA Clinical Significance	Condition(s)	Reference	Remarks
245000.3.2	Saudi Arabia	2		Likely Pathogenic	Papillon-Lefevre Syndrome	Zhang et al. 2001	Proband
245000.3.3	Saudi Arabia	2		Likely Pathogenic	Papillon-Lefevre Syndrome	Zhang et al. 2001	Proband
245000.3.4	Saudi Arabia	2		Likely Pathogenic	Papillon-Lefevre Syndrome	Zhang et al. 2001	Proband
245000.3.5	Saudi Arabia	2		Likely Pathogenic	Papillon-Lefevre Syndrome	Zhang et al. 2001	Proband
245000.6.1	Lebanon	2		Pathogenic	Papillon-Lefevre Syndrome	Kurbat et al. 2009
245000.6.2	Lebanon	2		Pathogenic	Papillon-Lefevre Syndrome	Kurbat et al. 2009	Sibling of 245000.6.1
245000.6.3	Lebanon	2		Pathogenic	Papillon-Lefevre Syndrome	Kurbat et al. 2009	Sibling of 245000.6.1
245000.G.2	Saudi Arabia	60		Likely Pathogenic	Papillon-Lefevre Syndrome	Ullbro et al. 2006	Group of 30 patients

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Contributors

Sayeeda Hana: 28.01.2020

Edit History

Pratibha Nair: 22.11.2022
Pratibha Nair: 01.04.2020
Sayeeda Hana: 28.01.2020

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© CAGS 2024. All rights reserved.

© CAGS 2024. All rights reserved.