ADGRL1-AS1

ADGRL1 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 19:14137086-14171268

Links

ENSG00000267169 ∙ NCBI:100507373 ∙ ∙ HGNC:55309 ∙ ∙ ∙ 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 ADGRL1-AS1 gene.

• Inborn genetic diseases (66 variants)
• not provided (11 variants)
• Developmental delay, behavioral abnormalities, and neuropsychiatric disorders (7 variants)
• Seizure;Global developmental delay;Autistic behavior;Attention deficit hyperactivity disorder (2 variants)
• Intellectual disability;Global developmental delay;Autistic behavior;Attention deficit hyperactivity disorder (2 variants)
• Intellectual disability;Global developmental delay (2 variants)
• Global developmental delay (1 variants)
• Specific learning disability;Global developmental delay (1 variants)
• Neurodevelopmental disorder (1 variants)
• Specific learning disability;Intellectual disability;Global developmental delay (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ADGRL1-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	8	3	71	5	1	88
Total	8	3	71	5	1

Variants in ADGRL1-AS1

This is a list of pathogenic ClinVar variants found in the ADGRL1-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
19-14150892-T-G		Inborn genetic diseases	Uncertain significance (Oct 03, 2022)
19-14150940-G-T		Inborn genetic diseases	Uncertain significance (Jun 16, 2024)
19-14150962-G-A		Inborn genetic diseases	Uncertain significance (Apr 17, 2024)
19-14150979-T-C		Inborn genetic diseases	Uncertain significance (Mar 15, 2024)
19-14151030-T-A		Inborn genetic diseases	Uncertain significance (Feb 15, 2023)
19-14151035-T-G		Inborn genetic diseases	Uncertain significance (Nov 08, 2022)
19-14151054-G-A		Inborn genetic diseases	Uncertain significance (Dec 04, 2024)
19-14151055-C-T		Inborn genetic diseases	Uncertain significance (Nov 18, 2022)
19-14151082-T-C		Inborn genetic diseases	Uncertain significance (Aug 13, 2021)
19-14151085-G-C		Inborn genetic diseases	Uncertain significance (Jan 19, 2024)
19-14151099-C-T		Inborn genetic diseases	Uncertain significance (Feb 08, 2023)
19-14151103-C-T		Inborn genetic diseases	Uncertain significance (Jan 24, 2023)
19-14151105-G-C		Inborn genetic diseases	Uncertain significance (Aug 16, 2021)
19-14151115-G-A		Inborn genetic diseases	Uncertain significance (Mar 18, 2024)
19-14151144-T-C		Inborn genetic diseases	Uncertain significance (Apr 25, 2022)
19-14151147-A-C		Developmental delay, behavioral abnormalities, and neuropsychiatric disorders	Uncertain significance (Mar 26, 2024)
19-14151148-G-C		Inborn genetic diseases	Uncertain significance (Sep 05, 2024)
19-14151152-G-T			Uncertain significance (Nov 08, 2023)
19-14151157-G-C		Inborn genetic diseases	Uncertain significance (Jun 11, 2021)
19-14151180-C-T		Inborn genetic diseases	Uncertain significance (Apr 01, 2024)
19-14151190-C-T		Inborn genetic diseases	Uncertain significance (Oct 09, 2024)
19-14151193-C-T		Inborn genetic diseases	Uncertain significance (Jun 30, 2022)
19-14151199-C-G		Inborn genetic diseases	Uncertain significance (Nov 15, 2021)
19-14151207-C-T		Inborn genetic diseases	Uncertain significance (Nov 07, 2022)
19-14151229-C-T		Inborn genetic diseases	Uncertain significance (Nov 17, 2022)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP