NM_004273.5:c.911G>A - CAGS

NM_004273.5:c.911G>A

HGVS Expressions

NG_012635.1:g.48581G>A
NM_004273.5:c.911G>A
NP_004264.2:p.Arg304Gln
NC_000010.11:g.72007942G>A

Associated Genes

Carbohydrate Sulfotransferase 3

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Clinvar Clinical Significance

Pathogenic, Uncertain Significance

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

Clinvar

Epidemiology in the Arab World

Oman

Subject ID	Country of Origin	Allele Count	Allele Frequency	CTGA Clinical Significance	Condition(s)	Reference	Remarks
143095.1.1	Oman	2		Pathogenic	Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations	Thiele et al. 2004
143095.1.2	Oman	2		Pathogenic	Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations	Thiele et al. 2004	Sister of 143095.1.1
143095.1.3	Oman	2		Pathogenic	Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations	Thiele et al. 2004	Sister of 143095.1.1
143095.1.4	Oman	2		Pathogenic	Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations	Thiele et al. 2004	Sister of 143095.1.1
143095.1.5	Oman	1		Pathogenic		Thiele et al. 2004	Unaffected father of 143095.1.1
143095.1.6	Oman	1		Pathogenic		Thiele et al. 2004	Unaffected mother of 143095.1.1
143095.2.01	Oman	2		Pathogenic	Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations	Thiele et al. 2004
143095.2.02	Oman	2		Pathogenic	Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations	Thiele et al. 2004	Sister of 143095.2.01
143095.2.03	Oman	2		Pathogenic	Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations	Thiele et al. 2004	Sister of 143095.2.01
143095.2.04	Oman	2		Pathogenic	Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations	Thiele et al. 2004	Sister of 143095.2.01
143095.2.05	Oman	1		Pathogenic		Thiele et al. 2004	Unaffected father of 143095.2.01
143095.2.06	Oman	1		Pathogenic		Thiele et al. 2004	Unaffected mother of 143095.2.01
143095.2.07	Oman	1		Pathogenic		Thiele et al. 2004	Unaffected brother of 143095.2.01
143095.2.08	Oman	1		Pathogenic		Thiele et al. 2004	Unaffected sister of 143095.2.01
143095.2.09	Oman	1		Pathogenic		Thiele et al. 2004	Unaffected sister of 143095.2.01
143095.2.10	Oman	1		Pathogenic		Thiele et al. 2004	Unaffected brother of 143095.2.01

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Contributors

Sayeeda Hana: 16.09.2019

Edit History

Pratibha Nair: 22.11.2022
Sayeeda Hana: 16.09.2019

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© CAGS 2024. All rights reserved.

© CAGS 2024. All rights reserved.