GeneBe

PDCD6-AHRR

PDCD6-AHRR readthrough (NMD candidate)

Basic information

Region (hg38): 5:271670-438291

Links

ENSG00000288622 ∙ NCBI:116412618 ∙ ∙ HGNC:54724 ∙ ∙ ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the PDCD6-AHRR gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PDCD6-AHRR gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type Pathogenic Likely pathogenic VUS Likely benign Benign Sum
synonymous
0
missense
0
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
2
1
 3
non coding
65
clinvar
13
clinvar
2
clinvar
 80
Total 0 0 65 13 2

Variants in PDCD6-AHRR

This is a list of pathogenic ClinVar variants found in the PDCD6-AHRR region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position Type Phenotype Significance ClinVar
5-271788-C-T not specified Uncertain significance (Sep 16, 2021)2250323
5-272714-C-T Likely benign (Feb 01, 2023)2655242
5-272758-A-G not specified Uncertain significance (Dec 12, 2023)2389323
5-272763-C-G not specified Uncertain significance (Jun 07, 2023)2559104
5-272763-C-T not specified Uncertain significance (Jan 19, 2022)2272431
5-272771-C-G not specified Uncertain significance (Dec 21, 2022)3210584
5-304180-C-A not specified Uncertain significance (Jan 12, 2024)3210585
5-306691-C-T not specified Uncertain significance (Jun 09, 2022)2225202
5-306694-A-G not specified Uncertain significance (Feb 07, 2023)2481898
5-306695-C-T not specified Uncertain significance (Jun 24, 2022)2408440
5-306723-C-G not specified Uncertain significance (Apr 25, 2023)2570142
5-311298-C-T not specified Uncertain significance (Sep 30, 2021)2252883
5-311332-G-A not specified Uncertain significance (Dec 19, 2022)2381565
5-311341-A-G not specified Uncertain significance (Nov 15, 2021)2261683
5-314429-A-G not specified Uncertain significance (Oct 27, 2022)2321109
5-353740-G-A not specified Uncertain significance (May 08, 2023)2507706
5-353743-G-C not specified Uncertain significance (May 21, 2024)3278819
5-353755-T-C not specified Uncertain significance (Jun 24, 2022)3102155
5-353771-G-A not specified Uncertain significance (Dec 21, 2023)3102192
5-353776-C-T not specified Uncertain significance (Apr 01, 2024)3278756
5-353783-G-A not specified Uncertain significance (Oct 27, 2022)2321172
5-353783-G-T not specified Uncertain significance (Jun 21, 2023)2595275
5-353792-C-G not specified Uncertain significance (Jan 18, 2022)2272112
5-353823-G-A Likely benign (Mar 29, 2018)726872
5-353863-G-A not specified Uncertain significance (Mar 06, 2023)2456970

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP