NM_001011649.2:c.384_2106del - CAGS

NM_001011649.2:c.384_2106del

HGVS Expressions

NM_001011649.2:c.384_2106del
NP_001011649.1:p.Lys129PhefsTer22
NC_000009.12:g.120467862_120539166del

Associated Genes

CDK5 Regulatory Subunit-Associated Protein 2

Back to search Result

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Deletion

Epidemiology in the Arab World

Show entries

Search:

Subject ID	Country of Origin	Allele Count	CTGA Clinical Significance	Condition(s)	Reference	Remarks
604804.1.1	Saudi Arabia	1	Likely Pathogenic	Microcephaly 3, Primary, Autosomal Recessive	Shaheen et al. 2019
604804.1.2	Saudi Arabia	1	Likely Pathogenic	Microcephaly 3, Primary, Autosomal Recessive	Shaheen et al. 2019	Relative of 604804.1.1

Download Table

Contributors

Sayeeda Hana: 11.11.2021

Edit History

Rahila Mir: 08.02.2022
Sayeeda Hana: 11.11.2021

Back to search Result

© CAGS 2025. All rights reserved.

© CAGS 2025. All rights reserved.