NM_015107.3:c.1460A>G - CAGS

NM_015107.3:c.1460A>G

HGVS Expressions

NG_021309.1:g.56370A>G
NM_015107.3:c.1460A>G
NP_055922.1:p.Lys487Arg
NC_000023.11:g.53993767T>C

Associated Genes

PHD Finger Protein 8

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CTGA Clinical Significance

Uncertain Significance

Variant Type

Substitution

dbSNP

Epidemiology in the Arab World

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Subject ID	Country of Origin	Allele Count	CTGA Clinical Significance	Condition(s)	Reference	Remarks
300263.1	Saudi Arabia	1	Uncertain Significance	Intellectual Developmental Disorder, X-Linked, Syndromic, Siderius Type	Monies et al. 2017

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Contributors

Asha Deepthi: 21.03.2025

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Asha Deepthi: 21.03.2025

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© CAGS 2025. All rights reserved.