AP1G2-AS1

AP1G2 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 14:23561097-23568237

Links

ENSG00000258727 ∙ NCBI:102724814 ∙ ∙ HGNC:55442 ∙ ∙ ∙ 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 AP1G2-AS1 gene.

• Inborn genetic diseases (31 variants)
• Global developmental delay (1 variants)
• Tracheoesophageal fistula (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the AP1G2-AS1 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		1	32			33
Total	0	1	32	0	0

Highest pathogenic variant AF is 0.0000657

Variants in AP1G2-AS1

This is a list of pathogenic ClinVar variants found in the AP1G2-AS1 region.

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

Position	Type	Phenotype	Significance	ClinVar
14-23561308-G-A		not specified	Uncertain significance (Dec 20, 2023)
14-23561355-G-A		not specified	Uncertain significance (Aug 08, 2023)
14-23561423-C-G		not specified	Uncertain significance (Nov 14, 2023)
14-23561513-T-G		not specified	Uncertain significance (Jun 17, 2024)
14-23561600-C-T		not specified	Uncertain significance (Dec 09, 2023)
14-23561610-G-C		not specified	Uncertain significance (Sep 22, 2023)
14-23561975-A-G		not specified	Uncertain significance (Oct 02, 2023)
14-23561980-C-T		not specified	Uncertain significance (Feb 06, 2024)
14-23561981-G-A		not specified	Uncertain significance (Dec 27, 2023)
14-23562034-C-T		not specified	Uncertain significance (Nov 10, 2024)
14-23562053-C-T		not specified	Uncertain significance (Dec 07, 2023)
14-23562058-C-T		not specified	Uncertain significance (May 02, 2024)
14-23562306-C-T		not specified	Uncertain significance (Oct 06, 2024)
14-23562355-G-A		not specified	Uncertain significance (Jan 26, 2023)
14-23562371-C-G		not specified	Uncertain significance (Dec 26, 2023)
14-23562379-C-A		not specified	Uncertain significance (Sep 01, 2021)
14-23562517-A-G		not specified	Likely benign (Nov 18, 2023)
14-23563396-G-T		not specified	Uncertain significance (Jul 30, 2023)
14-23563414-C-T		not specified	Uncertain significance (Jan 04, 2024)
14-23563418-G-A		not specified	Uncertain significance (Jan 29, 2024)
14-23563466-G-C		not specified	Uncertain significance (Nov 26, 2024)
14-23563481-C-T		not specified	Uncertain significance (Oct 06, 2021)
14-23563486-C-T		not specified	Uncertain significance (May 31, 2023)
14-23563493-G-A		not specified	Likely benign (Aug 26, 2024)
14-23563501-G-A		not specified	Uncertain significance (Mar 17, 2023)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP