NM_014714.4:c.1990G>A - CAGS

NM_014714.4:c.1990G>A

HGVS Expressions

NG_032783.1:g.53035G>A
NM_014714.4:c.1990G>A
NP_055529.2:p.Glu664Lys

Associated Genes

Intraflagellar Transport 140, Chlamydomonas, Homolog of

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Genomic Location

chr16:1564074

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic, Pathogenic

Variant Type

Substitution

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
266920.1	Saudi Arabia	1	NA	Likely Pathogenic	Short-Rib Thoracic Dysplasia 9 with or without Polydactyly	Maddirevula et al. 2018
266920.2.1	Saudi Arabia	2	NA	Likely Pathogenic	Short-Rib Thoracic Dysplasia 9 with or without Polydactyly	Maddirevula et al. 2018
266920.2.2	Saudi Arabia	2	NA	Likely Pathogenic	Short-Rib Thoracic Dysplasia 9 with or without Polydactyly	Maddirevula et al. 2018	Relative of 266920.2.1
617781.1	Saudi Arabia	2		Pathogenic	Retinitis Pigmentosa 80	Bifari et al. 2016
617781.2	Saudi Arabia	2		Pathogenic	Retinitis Pigmentosa 80	Bifari et al. 2016
617781.3	Saudi Arabia	2		Pathogenic	Retinitis Pigmentosa 80	Bifari et al. 2016
617781.4	Saudi Arabia	2		Pathogenic	Retinitis Pigmentosa 80	Bifari et al. 2016
617781.5	Saudi Arabia	2		Pathogenic	Retinitis Pigmentosa 80	Bifari et al. 2016
617781.6	Saudi Arabia	2		Pathogenic	Retinitis Pigmentosa 80	Bifari et al. 2016
617781.7	Saudi Arabia	2		Pathogenic	Retinitis Pigmentosa 80	Bifari et al. 2016; Khan et al, 2014
617781.8	Saudi Arabia	2		Pathogenic	Retinitis Pigmentosa 80	Bifari et al. 2016; Khan et al, 2014
617781.9	Saudi Arabia	2		Pathogenic	Retinitis Pigmentosa 80	Bifari et al. 2016	The patient had two similarly affected f...
617781.10.1	Saudi Arabia	2		Pathogenic	Retinitis Pigmentosa 80	Bifari et al. 2016	Relative of 617781.10.2
617781.10.2	Saudi Arabia	2		Pathogenic	Retinitis Pigmentosa 80	Bifari et al. 2016	Relative of 617781.10.1
266920.G.1	Saudi Arabia	6		Pathogenic	Short-Rib Thoracic Dysplasia 9 with or without Polydactyly	Patel et al, 2018	3 family members
266920.G.2	Saudi Arabia	10		Pathogenic	Short-Rib Thoracic Dysplasia 9 with or without Polydactyly	Patel et al, 2018	5 family members

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Contributors

Sayeeda Hana: 11.06.2020

Edit History

Asha Deepthi: 27.12.2021
Sayeeda Hana: 21.07.2020
Sayeeda Hana: 17.06.2020
Sayeeda Hana: 11.06.2020

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© CAGS 2024. All rights reserved.

© CAGS 2024. All rights reserved.