SORL1-AS1

SORL1 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 11:121413274-121453013

Links

ENSG00000246790 ∙ NCBI:105369536 ∙ ∙ HGNC:55594 ∙ ∙ ∙ 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 SORL1-AS1 gene.

• not provided (15 variants)
• Inborn genetic diseases (4 variants)
• not specified (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SORL1-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			15	3	1	19
Total	0	0	15	3	1

Variants in SORL1-AS1

This is a list of pathogenic ClinVar variants found in the SORL1-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
11-121431110-C-A		not specified	Benign (Apr 02, 2020)
11-121431925-T-A		not specified	Benign (Apr 02, 2020)
11-121431937-A-G		not specified	Benign (Apr 02, 2020)
11-121432497-G-A		not specified	Benign (Apr 02, 2020)
11-121432865-T-G		not specified	Benign (Apr 02, 2020)
11-121435753-G-A		not specified	Benign (Apr 02, 2020)
11-121448322-T-C			Uncertain significance (-)
11-121452346-C-A		not specified	Uncertain significance (Dec 08, 2023)
11-121452348-G-C			Uncertain significance (Feb 10, 2022)
11-121452360-C-T			Uncertain significance (May 31, 2021)
11-121452363-G-C			Uncertain significance (Dec 01, 2023)
11-121452371-T-G		not specified	Uncertain significance (Nov 09, 2021)
11-121452394-G-A			Likely benign (Oct 08, 2021)
11-121452399-C-T		not specified	Uncertain significance (Aug 30, 2021)
11-121452407-G-C			Uncertain significance (Jul 29, 2023)
11-121452435-T-G			Uncertain significance (Feb 21, 2022)
11-121452437-C-T		not specified	Uncertain significance (Sep 16, 2021)
11-121452443-G-A			Uncertain significance (Jul 03, 2022)
11-121452446-A-G		not specified	Uncertain significance (Apr 20, 2024)
11-121452464-G-T			Uncertain significance (Oct 06, 2023)
11-121452467-C-G		SORL1-related disorder	Likely benign (Dec 11, 2023)
11-121452468-G-C			Uncertain significance (Feb 25, 2023)
11-121452491-G-C			Uncertain significance (Nov 22, 2023)
11-121452532-G-C			Uncertain significance (Nov 17, 2021)
11-121452532-G-T			Uncertain significance (Jan 20, 2024)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP