ANKRD34A

ankyrin repeat domain 34A, the group of Ankyrin repeat domain containing

Basic information

Region (hg38): 1:145959441-145964575

Previous symbols: [ "ANKRD34" ]

Links

ENSG00000272031 ∙ NCBI:284615 ∙ ∙ HGNC:27639 ∙ Uniprot:Q69YU3 ∙ AlphaFold ∙ 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 ANKRD34A gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ANKRD34A 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			26			26
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	26	0	0

Variants in ANKRD34A

This is a list of pathogenic ClinVar variants found in the ANKRD34A region.

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

Position	Type	Phenotype	Significance	ClinVar
1-145960299-A-T		not specified	Uncertain significance (Jul 12, 2023)
1-145960381-C-A		not specified	Uncertain significance (Jun 03, 2024)
1-145960445-T-C		not specified	Uncertain significance (Mar 03, 2025)
1-145960481-G-A		not specified	Uncertain significance (Nov 13, 2024)
1-145960529-T-A		not specified	Uncertain significance (Oct 20, 2023)
1-145960543-C-G		not specified	Uncertain significance (Feb 21, 2024)
1-145960561-C-T		not specified	Uncertain significance (Dec 02, 2024)
1-145960571-T-C		not specified	Uncertain significance (Sep 07, 2022)
1-145960722-G-C		not specified	Uncertain significance (Sep 01, 2024)
1-145960756-C-A		not specified	Uncertain significance (Aug 12, 2022)
1-145960777-C-T		not specified	Uncertain significance (Jun 25, 2024)
1-145960829-G-C		not specified	Uncertain significance (Jan 03, 2024)
1-145960838-C-G		not specified	Uncertain significance (May 30, 2024)
1-145960906-C-A		not specified	Uncertain significance (Feb 25, 2025)
1-145960907-G-C		not specified	Uncertain significance (Feb 23, 2023)
1-145960942-G-A		not specified	Uncertain significance (Dec 27, 2023)
1-145960942-G-T		not specified	Uncertain significance (Dec 17, 2021)
1-145960964-G-C		not specified	Uncertain significance (Nov 11, 2024)
1-145961000-C-T		not specified	Uncertain significance (May 11, 2022)
1-145961129-G-C		not specified	Uncertain significance (Jul 06, 2024)
1-145961206-G-C		not specified	Uncertain significance (May 30, 2023)
1-145961234-G-A		not specified	Uncertain significance (Aug 02, 2021)
1-145961240-C-G		not specified	Uncertain significance (May 07, 2024)
1-145961279-T-G		not specified	Uncertain significance (May 21, 2024)
1-145961491-C-T		not specified	Uncertain significance (Nov 27, 2023)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

Intolerance Scores

• loftool: 0.0382
• rvis_EVS: -0.49
• rvis_percentile_EVS: 22.09

Haploinsufficiency Scores

• pHI: 0.140
• hipred: Y
• hipred_score: 0.662

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.260

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Ankrd34a