NM_153704.5:c.1065+1delG - CAGS

NM_153704.5:c.1065+1delG

HGVS Expressions

NG_009190.1:g.31902delG
NM_153704.5:c.1065+1delG

Associated Genes

Transmembrane Protein 67

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Genomic Location

chr8:93786270

Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Deletion

dbSNP

Clinvar

Epidemiology in the Arab World

Palestine

Subject ID	Country of Origin	Allele Count	Allele Frequency	CTGA Clinical Significance	Condition(s)	Reference	Remarks
607361.4.1	Palestine	2		Likely Pathogenic	Meckel Syndrome, Type 3	Khaddour et al. 2007	The proband had an affected sibling who ...
607361.4.2	Palestine	1		Likely Pathogenic		Khaddour et al. 2007	Father of patient 607361.4.1
607361.4.3	Palestine	1		Likely Pathogenic		Khaddour et al. 2007	Mother of patient 607361.4.1

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Contributors

Sami Bizzari: 17.05.2020

Edit History

Sami Bizzari: 24.06.2020
Sami Bizzari: 23.06.2020
Sami Bizzari: 17.05.2020

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© CAGS 2024. All rights reserved.

© CAGS 2024. All rights reserved.