ADNP-AS1

ADNP antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 20:50930236-50946531

Links

ENSG00000259456 ∙ NCBI:101927631 ∙ ∙ HGNC:51227 ∙ ∙ ∙ 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 ADNP-AS1 gene.

• Congenital disorder of glycosylation type 1E (93 variants)
• not provided (22 variants)
• Inborn genetic diseases (6 variants)
• not specified (5 variants)
• Congenital disorder of glycosylation (3 variants)
• Intellectual disability (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ADNP-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	5	5	52	44	6	112
Total	5	5	52	44	6

Highest pathogenic variant AF is 0.0000263

Variants in ADNP-AS1

This is a list of pathogenic ClinVar variants found in the ADNP-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
20-50934884-A-T		Congenital disorder of glycosylation type 1E	Uncertain significance (Jan 13, 2018)
20-50934941-T-C		Congenital disorder of glycosylation type 1E	Uncertain significance (Jan 13, 2018)
20-50934973-T-C		Congenital disorder of glycosylation type 1E	Uncertain significance (Jan 12, 2018)
20-50935015-T-C		Congenital disorder of glycosylation type 1E	Uncertain significance (Jan 13, 2018)
20-50935102-T-C			Likely benign (May 18, 2020)
20-50935113-A-T		not specified	Likely benign (Apr 27, 2016)
20-50935120-A-G		Congenital disorder of glycosylation type 1E	Uncertain significance (Jan 13, 2018)
20-50935136-G-A		Congenital disorder of glycosylation • Congenital disorder of glycosylation type 1E • Inborn genetic diseases	Uncertain significance (Dec 06, 2023)
20-50935147-A-G		Congenital disorder of glycosylation type 1E	Likely benign (Jul 13, 2023)
20-50935152-T-C		Congenital disorder of glycosylation type 1E • Inborn genetic diseases	Uncertain significance (Jan 23, 2023)
20-50935156-T-C		Congenital disorder of glycosylation type 1E • DPM1-related disorder	Conflicting classifications of pathogenicity (Aug 15, 2023)
20-50935158-A-C		Congenital disorder of glycosylation type 1E	Uncertain significance (Sep 07, 2022)
20-50935161-C-T		Congenital disorder of glycosylation type 1E	Uncertain significance (Jul 05, 2022)
20-50935173-A-G		Congenital disorder of glycosylation type 1E	Likely pathogenic (Nov 01, 2021)
20-50935189-T-C		Congenital disorder of glycosylation type 1E	Likely benign (Jan 11, 2023)
20-50935209-A-G		Congenital disorder of glycosylation type 1E • Inborn genetic diseases	Uncertain significance (Jun 16, 2024)
20-50935213-A-G		Congenital disorder of glycosylation type 1E	Likely benign (Apr 14, 2020)
20-50935214-C-T		Congenital disorder of glycosylation type 1E	Uncertain significance (Jul 19, 2022)
20-50935217-T-C		Congenital disorder of glycosylation type 1E	Uncertain significance (Jul 19, 2022)
20-50935223-A-G		Congenital disorder of glycosylation type 1E	Uncertain significance (Jul 12, 2022)
20-50935227-A-C		Congenital disorder of glycosylation type 1E	Uncertain significance (Aug 08, 2020)
20-50935230-T-C		Congenital disorder of glycosylation type 1E	Uncertain significance (Mar 20, 2023)
20-50935231-T-C		not specified • Congenital disorder of glycosylation type 1E	Likely benign (Sep 06, 2022)
20-50935231-T-G		Congenital disorder of glycosylation type 1E	Likely benign (Sep 02, 2022)
20-50935242-T-TA		Congenital disorder of glycosylation • Congenital disorder of glycosylation type 1E • not specified	Benign/Likely benign (Jan 31, 2024)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP