TECPR1 Chromosome 7

Tectonin beta-propeller repeat containing 1

2 variants 2 Health Risk

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What This Gene Does

This gene encodes a tethering factor involved in autophagy. The encoded protein is found at autolysosomes, and is involved in targeting protein aggregates, damaged mitochondria, and bacterial pathogens for autophagy [provided by RefSeq, Nov 2012]

Associated Conditions (2)

Moyamoya angiopathy

Esophageal atresia/tracheoesophageal fistula

Key Variants

RS376512300

Likely pathogenic

Moyamoya angiopathy, Moyamoya angiopathy

Health Risk

RS767020833

Likely pathogenic

Esophageal atresia/tracheoesophageal fistula, Esophageal atresia/tracheoesophageal fistula

Health Risk

All Variants (2)

RSID	Category	Clinical Significance	Conditions
RS376512300	Health Risk	Likely pathogenic	Moyamoya angiopathy, Moyamoya angiopathy
RS767020833	Health Risk	Likely pathogenic	Esophageal atresia/tracheoesophageal fistula, Esophageal atresia/tracheoesophageal fistula