PDCD6-AHRR

Chr 5

PDCD6-AHRR readthrough (NMD candidate)

The PDCD6-AHRR protein is predicted to bind calcium ions and participate in calcium-dependent protein interactions, with predicted localization to ER-to-Golgi transport vesicle membranes. Based on the limited functional annotation available, no well-established disease associations or inheritance patterns have been documented for this gene.

ResearchSummary from RefSeq

Predicted to enable calcium ion binding activity and calcium-dependent protein binding activity. Predicted to be located in ER to Golgi transport vesicle membrane. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

Clinical Summary— PDCD6-AHRR

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ClinVar Variants

162 VUS of 210 total submissions

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Some data sources returned errors (1)

gnomad: Error: Gene not found

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

210 submitted variants in ClinVar

ClinVar

Classification Summary

VUS162

Likely Benign20

Benign2

162

VUS

Likely Benign

Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	LoF	Missense + Inframe	Non-coding	Synonymous	Total
Pathogenic	0	0	0	0	0
Likely Pathogenic	0	0	0	0	0
VUS	1	155	6	0	162
Likely Benign	0	10	3	7	20
Benign	0	0	2	0	2
Total	1	165	11	7	184

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

58 pathogenic / likely-pathogenic (of 74) ClinVar copy-number / structural variants overlap PDCD6-AHRR — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →