NM_006005.3:c.2649del - CAGS

NM_006005.3:c.2649del

HGVS Expressions

NG_011700.1:g.37595del
NM_006005.3:c.2649del
NP_005996.2:p.Phe884fs

Associated Genes

Wolframin ER Transmembrane Glycoprotein

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Genomic Location

chr4:6302444

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Deletion

dbSNP

Epidemiology in the Arab World

Lebanon

Subject ID	Country of Origin	Allele Count	Allele Frequency	CTGA Clinical Significance	Condition(s)	Reference	Remarks
125853.1	Lebanon	2		Likely Pathogenic	Type 2 Diabetes Mellitus	Zalloua et al. 2008
125853.2	Lebanon	2		Likely Pathogenic	Type 2 Diabetes Mellitus	Zalloua et al. 2008
222300.4	Lebanon	2		Likely Pathogenic	Wolfram Syndrome 1	Zalloua et al. 2008
222300.8	Lebanon	2		Likely Pathogenic	Wolfram Syndrome 1	Zalloua et al. 2008
222300.9	Lebanon	2		Likely Pathogenic	Wolfram Syndrome 1	Zalloua et al. 2008
125853.G.1	Lebanon	6		Likely Pathogenic	Type 2 Diabetes Mellitus	Zalloua et al. 2008	Family with 3 affected individuals
125853.G.2	Lebanon	6		Likely Pathogenic	Type 2 Diabetes Mellitus	Zalloua et al. 2008	Family with 3 affected individuals
125853.G.3	Lebanon	4		Likely Pathogenic	Type 2 Diabetes Mellitus	Zalloua et al. 2008	Family with 2 affected individuals
222300.G.2	Lebanon	4		Likely Pathogenic	Wolfram Syndrome 1	Zalloua et al. 2008	Family with 2 affected members
222300.G.4	Lebanon	4		Likely Pathogenic	Wolfram Syndrome 1	Zalloua et al. 2008	Family with 2 affected members
222300.G.7	Lebanon	4		Likely Pathogenic	Wolfram Syndrome 1	Zalloua et al. 2008	Family with 2 affected members
222300.G.8	Lebanon	4		Likely Pathogenic	Wolfram Syndrome 1	Zalloua et al. 2008	Family with 2 affected members

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Contributors

Pratibha Nair: 13.04.2020

Edit History

Rahila Mir: 14.02.2022
Pratibha Nair: 14.04.2020
Pratibha Nair: 13.04.2020

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© CAGS 2024. All rights reserved.

© CAGS 2024. All rights reserved.