NM_015308.5:c.683C>T - CAGS

NM_015308.5:c.683C>T

HGVS Expressions

NG_053146.1:g.21234C>T
NM_015308.5:c.683C>T
NP_056123.2:p.Thr228Met

Associated Genes

Formin-Binding Protein 4

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Genomic Location

chr11:47751245

Clinvar Clinical Significance

Uncertain Significance

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

Clinvar

Epidemiology in the Arab World

Lebanon

Subject ID	Country of Origin	Allele Count	Allele Frequency	CTGA Clinical Significance	Condition(s)	Reference	Remarks
206920.1.1	Lebanon	2		Likely Pathogenic	Microphthalmia with Limb Anomalies	Megarbane et al. 1998; Kondo et al, 2013
206920.1.2	Lebanon	1		Likely Pathogenic		Megarbane et al. 1998; Kondo et al, 2013	Unaffected father of 206920.1.1
206920.1.3	Lebanon	1		Likely Pathogenic		Megarbane et al. 1998; Kondo et al, 2013	Unaffected mother of 206920.1.1

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Contributors

Sayeeda Hana: 17.02.2020

Edit History

Sayeeda Hana: 08.01.2021
Sayeeda Hana: 17.02.2020

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© CAGS 2024. All rights reserved.

© CAGS 2024. All rights reserved.