RXYLT1-AS1

RXYLT1 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 12:63804739-63822219

Previous symbols: [ "TMEM5-AS1" ]

Links

ENSG00000255850 ∙ ∙ ∙ HGNC:48910 ∙ ∙ ∙ 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 RXYLT1-AS1 gene.

• not provided (95 variants)
• Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10 (12 variants)
• not specified (11 variants)
• Inborn genetic diseases (2 variants)
• Walker-Warburg congenital muscular dystrophy (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RXYLT1-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)	1		2	2		5
splice region						0
non coding	4	4	59	27	4	98
Total	5	4	61	29	4

Highest pathogenic variant AF is 0.0000394

Variants in RXYLT1-AS1

This is a list of pathogenic ClinVar variants found in the RXYLT1-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
12-63804938-T-G			Likely benign (Jun 28, 2018)
12-63804950-C-T			Benign (Jun 28, 2018)
12-63805016-G-A			Likely benign (Dec 17, 2018)
12-63805214-A-G			Likely benign (Mar 17, 2023)
12-63805215-T-C			Likely benign (Jul 17, 2023)
12-63805216-G-A		not specified	Likely benign (Nov 08, 2022)
12-63805226-T-A			Likely benign (Jan 26, 2023)
12-63805226-T-C			Likely benign (Dec 01, 2023)
12-63805232-AG-A			Likely pathogenic (Jan 17, 2023)
12-63805250-G-A		Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10	Uncertain significance (-)
12-63805258-G-A			Likely benign (Dec 17, 2023)
12-63805262-A-G		Inborn genetic diseases	Uncertain significance (Nov 18, 2022)
12-63805277-C-T			Uncertain significance (Jul 19, 2022)
12-63805284-AG-A		Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10	Pathogenic (Dec 28, 2023)
12-63805291-A-C			Likely benign (Jan 22, 2023)
12-63805292-T-C			Uncertain significance (Oct 17, 2022)
12-63805297-A-G			Likely benign (Apr 09, 2023)
12-63805314-C-G			Uncertain significance (Sep 01, 2021)
12-63805315-G-A		not specified	Benign/Likely benign (Jan 31, 2024)
12-63805321-T-C			Likely benign (Jun 29, 2023)
12-63805323-A-G			Uncertain significance (Jul 04, 2022)
12-63805336-A-G			Likely benign (Aug 24, 2023)
12-63805336-A-T			Uncertain significance (Jul 19, 2022)
12-63805345-A-G			Likely benign (Jan 31, 2024)
12-63805353-T-C			Uncertain significance (Jun 13, 2022)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP