rs2273238

This is a variant in the ANKRD6 gene that changes a threonine to an methionine.

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ClinVar annotation

Benign

1 submitter

ANKRD6-related disorder

About ANKRD6

Predicted to be involved in negative regulation of canonical Wnt signaling pathway; positive regulation of JNK cascade; and protein targeting to chloroplast. Predicted to act upstream of or within positive regulation of Wnt signaling pathway, planar cell polarity pathway. Located in intracellular membrane-bounded organelle. [provided by Alliance of Genome Resources, Apr 2025]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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