rs1435178592

This variant is located in the EHBP1L1 gene.

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ClinVar annotation

Uncertain Significance★★★☆

2 submitters1 publication

EHBP1L1-related disorder; not specified

About EHBP1L1

Predicted to act upstream of or within several processes, including enucleation; erythrocyte differentiation; and mitochondrion localization. Located in membrane. [provided by Alliance of Genome Resources, Jul 2025]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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