ZNF503-AS2

ZNF503 antisense RNA 2, the group of Antisense RNAs

Basic information

Region (hg38): 10:75400962-75408982

Previous symbols: [ "C10orf41", "NCRNA00245" ]

Links

ENSG00000237149 ∙ NCBI:100131213 ∙ ∙ HGNC:23525 ∙ Uniprot:A6NEH8 ∙ 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 ZNF503-AS2 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF503-AS2 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						0
non coding						0
Total	0	0	0	0	0

Variants in ZNF503-AS2

This is a list of pathogenic ClinVar variants found in the ZNF503-AS2 region.

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

Position	Type	Phenotype	Significance	ClinVar
10-75401227-G-A		not specified	Uncertain significance (Jun 28, 2023)
10-75401228-G-C		not specified	Uncertain significance (Jan 27, 2025)
10-75401230-C-T		not specified	Uncertain significance (Sep 21, 2023)
10-75401235-G-C		not specified	Uncertain significance (Dec 31, 2024)
10-75401250-A-C		not specified	Uncertain significance (May 26, 2024)
10-75401289-C-T		not specified	Uncertain significance (Jan 23, 2025)
10-75401290-C-T		not specified	Uncertain significance (Aug 01, 2022)
10-75401301-C-G		not specified	Uncertain significance (Jan 30, 2024)
10-75401327-G-A			Likely benign (May 01, 2022)
10-75401329-C-G		not specified	Uncertain significance (Jul 14, 2021)
10-75401331-G-C		not specified	Uncertain significance (Dec 19, 2022)
10-75401333-G-T		not specified	Uncertain significance (Dec 31, 2024)
10-75401341-C-T		not specified	Uncertain significance (Apr 07, 2023)
10-75401377-G-C		not specified	Uncertain significance (Oct 05, 2023)
10-75401394-G-A		not specified	Uncertain significance (Nov 09, 2024)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

Haploinsufficiency Scores

• ghis: 0.481

Essentials

• gene_indispensability_pred: N
• gene_indispensability_score: 0.114