NM_000124.4:c.2008C>T

HGVS Expressions

Genomic Location

chr10:49482848

Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

202080674

ClinVar

190158

Table of contents

Associated Genes

Excision Repair Cross-Complementing, Group 6

Epidemiology in the Arab World

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Subject ID	Country of Origin	Allele frequency	Allele count	Clinical Significance	Condition(s)	Reference	Remarks	Submitter ID	Submission ID
133540.1.1 10	Lebanon		2	Pathogenic	Cockayne Syndrome B	Chebly et al, 2018

Subject ID

Country of Origin

Allele frequency

Allele count

Clinical Significance

Condition(s)

Reference

Remarks

Submitter ID

Submission ID

133540.1.1

Lebanon

Pathogenic

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