NM_138425.4:c.1A>G

HGVS Expressions

NG_034262.1:g.5306A>G
NM_138425.4:c.1A>G
NP_612434.1:p.Met1?
NC_000012.12:g.6944122A>G

Associated Genes

Chromosome 12 Open Reading Frame 57

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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Likely Pathogenic, Pathogenic

Variant Type

Substitution

dbSNP

587776954

Clinvar

41942

Epidemiology in the Arab World

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Subject ID	Country of Origin	Allele Count	CTGA Clinical Significance	Condition(s)	Reference	Remarks
218340.1.1	United Arab Emirates	2	Pathogenic	Temtamy Syndrome	Akizu et al. 2013	Proband. Parents are first-cousins
218340.1.2	United Arab Emirates	2	Pathogenic	Temtamy Syndrome	Akizu et al. 2013	Sister of proband.
218340.1.3	United Arab Emirates	2	Pathogenic	Temtamy Syndrome	Akizu et al. 2013	Sister of proband.
218340.1.4	United Arab Emirates	1			Akizu et al. 2013	Healthy mother of proband.
218340.1.5	United Arab Emirates	1			Akizu et al. 2013	Healthy father of proband.
218340.2.1	Kuwait	2	Pathogenic	Temtamy Syndrome	Akizu et al. 2013	Proband. Parents are first-cousins.
218340.2.2	Kuwait	2	Pathogenic	Temtamy Syndrome	Akizu et al. 2013	Sibling of proband.
218340.2.3	Kuwait	2	Pathogenic	Temtamy Syndrome	Akizu et al. 2013	Sibling of proband.
218340.2.5	Kuwait	1			Akizu et al. 2013	Father of proband.
218340.3.1	Libya	2	Pathogenic	Temtamy Syndrome	Akizu et al. 2013	Proband.
218340.3.2	Libya	2	Pathogenic	Temtamy Syndrome	Akizu et al. 2013	Sibling of proband.
218340.3.3	Libya	1			Akizu et al. 2013	Mother of proband.
218340.3.4	Libya	1			Akizu et al. 2013	Father of proband.
218340.4.1	Palestine	2	Pathogenic	Temtamy Syndrome	Akizu et al. 2013	Proband.
218340.4.2	Palestine	2	Pathogenic	Temtamy Syndrome	Akizu et al. 2013	Sibling of proband.
218340.4.3	Palestine	1			Akizu et al. 2013	Mother of proband.
218340.4.4	Palestine	1			Akizu et al. 2013	Father of proband.
218340.13.1	Saudi Arabia	2	Pathogenic	Temtamy Syndrome	Zahrani et al. 2013
218340.13.2	Saudi Arabia	2	Pathogenic	Temtamy Syndrome	Zahrani et al. 2013	Sibling of 218340.13.1
218340.13.3	Saudi Arabia	2	Pathogenic	Temtamy Syndrome	Zahrani et al. 2013	Sibling of 218340.13.1
218340.13.4	Saudi Arabia	2	Pathogenic	Temtamy Syndrome	Zahrani et al. 2013	Sibling of 218340.13.1
218340.14.1	Saudi Arabia	1	Pathogenic	Temtamy Syndrome	Zahrani et al. 2013; Patel et al. 2018	Parents belong to the same tribe
218340.16	Saudi Arabia	2	Likely Pathogenic	Temtamy Syndrome	Monies et al. 2019
218340.17	Saudi Arabia	2	Likely Pathogenic	Temtamy Syndrome	Monies et al. 2019
218340.18	Saudi Arabia	2	Likely Pathogenic	Temtamy Syndrome	Monies et al. 2019
218340.21	United Arab Emirates	2	Pathogenic	Temtamy Syndrome	Saleh et al. 2021	Affected cousin
218340.22	Saudi Arabia	2	Pathogenic	Temtamy Syndrome	Monies et al. 2017	Patient has two affected siblings
218340.23	Saudi Arabia	2	Pathogenic	Temtamy Syndrome	Monies et al. 2017
218340.24	Saudi Arabia	2	Pathogenic	Temtamy Syndrome	Monies et al. 2017
218340.26	Saudi Arabia	2	Pathogenic	Temtamy Syndrome	Monies et al. 2017
218340.27	Saudi Arabia	2	Likely Pathogenic	Temtamy Syndrome	Monies et al. 2017
2180340.2.4	Kuwait	1			Akizu et al. 2013	Mother of proband.
218340.G.1	Saudi Arabia	30	Pathogenic	Temtamy Syndrome	Alrakaf et al. 2018; Patel et al. 2018	Group of 15 Saudi Arabian patients. (12 ...
218340.G.2	Syria	2	Pathogenic	Temtamy Syndrome	Reuter et al. 2017	2 members of a family

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Contributors

Sami Bizzari: 30.08.2021

Edit History

Sayeeda Hana: 26.11.2024
Asha Deepthi: 04.10.2024
Pratibha Nair: 18.12.2023
Sami Bizzari: 27.12.2022
Sayeeda Hana: 26.11.2022
Pratibha Nair: 15.09.2022
Sayeeda Hana: 23.10.2021
Pratibha Nair: 12.10.2021
Sami Bizzari: 05.09.2021
Sami Bizzari: 02.09.2021
Sami Bizzari: 30.08.2021

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NM_138425.4:c.1A>G

HGVS Expressions

Associated Genes

Clinvar Clinical Significance

CTGA Clinical Significance

Variant Type

dbSNP

Clinvar

Epidemiology in the Arab World

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Contributors

Edit History

© CAGS 2024. All rights reserved.

© CAGS 2024. All rights reserved.