NM_001814.6:c.319-1G>A - CAGS

NM_001814.6:c.319-1G>A

HGVS Expressions

NG_007952.1:g.30219G>A
NM_001814.6:c.319-1G>A

Associated Genes

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Genomic Location

chr11:88312555

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

Subject ID	Country of Origin	Allele Count	Allele Frequency	CTGA Clinical Significance	Condition(s)	Reference	Remarks
245000.1.1	Jordan	2		Likely Pathogenic	Papillon-Lefevre Syndrome	Hattab and Amin, 2005	Proband
245000.1.2	Jordan	2		Likely Pathogenic	Papillon-Lefevre Syndrome	Hattab and Amin, 2005	Brother of 245000.1.1
245000.1.3	Jordan	2		Likely Pathogenic	Papillon-Lefevre Syndrome	Hattab and Amin, 2005	Sister of 245000.1.1
245000.5.1	Egypt	2		Likely Pathogenic	Papillon-Lefevre Syndrome	Hewitt et al. 2004	The patient also had a grandfather with ...
245000.5.2	Egypt	1		Likely Pathogenic		Hewitt et al. 2004	Unaffected father of 245000.5.1
245000.5.3	Egypt	1		Likely Pathogenic		Hewitt et al. 2004	Unaffected mother of 245000.5.1
245000.5.4	Egypt	1		Likely Pathogenic		Hewitt et al. 2004	Unaffected brother of 245000.5.1

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Contributors

Sayeeda Hana: 28.01.2020

Edit History

Rahila Mir: 14.02.2022
Sayeeda Hana: 04.02.2020
Sayeeda Hana: 28.01.2020

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© CAGS 2024. All rights reserved.

© CAGS 2024. All rights reserved.