NM_001378457.1:c.6257_6258insTTACATGA - CAGS

NM_001378457.1:c.6257_6258insTTACATGA

HGVS Expressions

NG_017155.1:g.146922_146923insTTACATGA
NM_001378457.1:c.6257_6258insTTACATGA
NP_001365386.1:p.Glu2086AspfsTer23
NC_000015.10:g.51480853_51480854insTAATCATG

Associated Genes

Back to search Result

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Insertion

dbSNP

Clinvar

Epidemiology in the Arab World

Show entries

Search:

Subject ID	Country of Origin	Allele Count	CTGA Clinical Significance	Condition(s)	Reference	Remarks
618663.1	Saudi Arabia	2	Likely Pathogenic	Developmental and Epileptic Encephalopathy 81	Maddirevula et al. 2019

Download Table

Contributors

Pratibha Nair: 04.10.2022

Edit History

Pratibha Nair: 04.10.2022

Back to search Result

© CAGS 2025. All rights reserved.

© CAGS 2025. All rights reserved.