NM_001288705.3:c.1905G>T - CAGS

NM_001288705.3:c.1905G>T

HGVS Expressions

NG_012303.2:g.57447G>T
NM_001288705.3:c.1905G>T
NP_001275634.1:p.Lys635Asn
NC_000005.10:g.150060926C>A

Associated Genes

Colony-Stimulating Factor 1 Receptor

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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

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Subject ID	Country of Origin	Allele Count	CTGA Clinical Significance	Condition(s)	Reference	Remarks
221820.1	Saudi Arabia	1	Likely Pathogenic	Leukoencephalopathy, Hereditary Diffuse, with Spheroids 1	Monies et al. 2017

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Contributors

Asha Deepthi: 07.01.2025

Edit History

Asha Deepthi: 07.01.2025

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© CAGS 2025. All rights reserved.