SOX21-AS1

SOX21 antisense divergent transcript 1

Basic information

Region (hg38): 13:94703454-94803430

Links

ENSG00000227640 ∙ NCBI:100507533 ∙ ∙ HGNC:39807 ∙ ∙ ∙ 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 SOX21-AS1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SOX21-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			17		1	18
Total	0	0	17	0	1

Variants in SOX21-AS1

This is a list of pathogenic ClinVar variants found in the SOX21-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
13-94711233-C-T		not specified	Uncertain significance (May 15, 2024)
13-94711245-G-A		not specified	Uncertain significance (Mar 31, 2024)
13-94711270-C-T		not specified	Uncertain significance (Jan 18, 2022)
13-94711299-G-A		not specified	Uncertain significance (Jul 13, 2022)
13-94711319-G-A		not specified	Uncertain significance (Jan 04, 2024)
13-94711365-G-A		not specified	Uncertain significance (Jul 14, 2023)
13-94711388-C-T		not specified	Uncertain significance (Dec 21, 2023)
13-94711439-G-T		not specified	Uncertain significance (Apr 18, 2023)
13-94711461-A-T		not specified	Uncertain significance (Nov 20, 2024)
13-94711470-A-G		not specified	Uncertain significance (Feb 03, 2022)
13-94711493-G-C		not specified	Uncertain significance (Feb 05, 2024)
13-94711506-T-G		not specified	Uncertain significance (Jan 03, 2024)
13-94711613-G-T		not specified	Uncertain significance (Oct 08, 2024)
13-94711650-G-A		not specified	Uncertain significance (Feb 07, 2023)
13-94711745-C-G		not specified	Uncertain significance (Mar 30, 2024)
13-94711792-C-G			Benign (Oct 13, 2020)
13-94711896-A-C		not specified	Uncertain significance (Mar 30, 2024)
13-94711901-G-C		not specified	Uncertain significance (Mar 30, 2024)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

Mouse Genome Informatics

• Gene name: Gm4675