NM_001136035.4:c.1332_1333del - CAGS

NM_001136035.4:c.1332_1333del

HGVS Expressions

NG_054900.1:g.13122_13123del
NM_001136035.4:c.1332_1333del
NP_001129507.1:p.Tyr445LeufsTer28
NC_000019.10:g.13109446_13109447del

Associated Genes

tRNA Methyltransferase 1

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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

dbSNP

Clinvar

Epidemiology in the Arab World

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Subject ID	Country of Origin	Allele Count	CTGA Clinical Significance	Condition(s)	Reference	Remarks
618302.1	Saudi Arabia	2	Pathogenic	Intellectual Developmental Disorder, Autosomal Recessive 68	Monies et al. 2017

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Contributors

Asha Deepthi: 03.01.2025

Edit History

Asha Deepthi: 03.01.2025

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© CAGS 2025. All rights reserved.