NM_020547.3:c.1219C>T - CAGS

NM_020547.3:c.1219C>T

HGVS Expressions

NG_015981.1:g.11055C>T
NM_020547.3:c.1219C>T
NP_065434.1:p.Arg407Ter

Associated Genes

Anti-Mullerian Hormone Type II Receptor

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Genomic Location

chr12:53429909

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

Epidemiology in the Arab World

Saudi Arabia

Subject ID	Country of Origin	Allele Count	Allele Frequency	CTGA Clinical Significance	Condition(s)	Reference	Remarks
261550.2.01	Saudi Arabia	2		Pathogenic	Persistent Mullerian Duct Syndrome, Types I and II	Abduljabbar et al. 2012	Index patient
261550.2.02	Saudi Arabia	2		Pathogenic	Persistent Mullerian Duct Syndrome, Types I and II	Abduljabbar et al. 2012	Brother of 261550.2.01
261550.2.03	Saudi Arabia	2		Pathogenic	Persistent Mullerian Duct Syndrome, Types I and II	Abduljabbar et al. 2012	Brother of 261550.2.01
261550.2.04	Saudi Arabia	2		Pathogenic	Persistent Mullerian Duct Syndrome, Types I and II	Abduljabbar et al. 2012	Brother of 261550.2.01
261550.2.05	Saudi Arabia	2		Pathogenic		Abduljabbar et al. 2012	Sister of 261550.2.01
261550.2.06	Saudi Arabia	1		Pathogenic		Abduljabbar et al. 2012	Sister of 261550.2.01
261550.2.07	Saudi Arabia	1		Pathogenic		Abduljabbar et al. 2012	Brother of 261550.2.01
261550.2.08	Saudi Arabia	1		Pathogenic		Abduljabbar et al. 2012	Brother of 261550.2.01
261550.2.09	Saudi Arabia	1		Pathogenic		Abduljabbar et al. 2012	Father of 261550.2.01
261550.2.10	Saudi Arabia	1		Pathogenic		Abduljabbar et al. 2012	Mother of 261550.2.01

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Contributors

Sayeeda Hana: 02.09.2020

Edit History

Rahila Mir: 17.02.2022
Sayeeda Hana: 02.09.2020

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© CAGS 2024. All rights reserved.

© CAGS 2024. All rights reserved.