ANKRD36C

ankyrin repeat domain 36C, the group of Ankyrin repeat domain containing

Basic information

Region (hg38): 2:95836919-95991831

Links

ENSG00000174501 ∙ NCBI:400986 ∙ ∙ HGNC:32946 ∙ Uniprot:Q5JPF3 ∙ 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 ANKRD36C gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ANKRD36C 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				12		12
missense				2		2
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	0	14	0

Variants in ANKRD36C

This is a list of pathogenic ClinVar variants found in the ANKRD36C region.

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

Position	Type	Phenotype	Significance	ClinVar
2-95853727-T-C			Likely benign (Jul 01, 2022)
2-95853744-C-T			Likely benign (Apr 01, 2023)
2-95853778-C-T			Likely benign (Jul 01, 2023)
2-95853838-T-C			Likely benign (Apr 01, 2023)
2-95855406-C-G		Peritoneal Gliomatosis	Uncertain significance (-)
2-95855620-G-A			Likely benign (Mar 01, 2023)
2-95855848-C-G			Likely benign (Aug 01, 2023)
2-95857414-G-T			Likely benign (Apr 01, 2023)
2-95891686-G-C		EBV-positive nodal T- and NK-cell lymphoma	Likely benign (-)
2-95902947-G-A			Likely benign (Sep 01, 2022)
2-95908690-A-T			Likely benign (May 01, 2024)
2-95916023-C-T			Likely benign (Mar 01, 2023)
2-95919777-A-G			Likely benign (Oct 01, 2023)
2-95921626-A-G			Likely benign (Nov 01, 2022)
2-95938828-C-T		CIC-rearranged sarcoma	not provided (-)
2-95945154-A-G			Likely benign (Nov 01, 2022)
2-95991612-G-A			Likely benign (Feb 01, 2023)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

Haploinsufficiency Scores

• ghis: 0.510

Essentials

• essential_gene_CRISPR2: S
• gene_indispensability_pred: N
• gene_indispensability_score: 0.114

Gene Damage Prediction

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

Gene ontology

• Molecular function: ion channel inhibitor activity