ERGIC1 Chromosome 5

Endoplasmic reticulum-golgi intermediate compartment 1

2 variants 2 Health Risk

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What This Gene Does

This gene encodes a cycling membrane protein which is an endoplasmic reticulum-golgi intermediate compartment (ERGIC) protein which interacts with other members of this protein family to increase their turnover. [provided by RefSeq, Jul 2008]

Associated Conditions (3)

Flexion contracture

Arthrogryposis multiplex congenita 2

neurogenic type

Key Variants

RS1581595267

Likely pathogenic

Flexion contracture, Flexion contracture

Health Risk

RS1554112524

Pathogenic

Arthrogryposis multiplex congenita 2, neurogenic type, Arthrogryposis multiplex congenita 2

Health Risk

All Variants (2)

RSID	Category	Clinical Significance	Conditions
RS1581595267	Health Risk	Likely pathogenic	Flexion contracture, Flexion contracture
RS1554112524	Health Risk	Pathogenic	Arthrogryposis multiplex congenita 2, neurogenic type, Arthrogryposis multiplex congenita 2