LIX1L-AS1

LIX1L antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 1:145926590-145959179

Links

ENSG00000234222 ∙ NCBI:105371260 ∙ ∙ HGNC:41210 ∙ ∙ ∙ 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 LIX1L-AS1 gene.

• Radial aplasia-thrombocytopenia syndrome (21 variants)
• Inborn genetic diseases (19 variants)
• not provided (11 variants)
• not specified (3 variants)
• RBM8A-related condition (2 variants)
• Global developmental delay;Abnormal brain morphology;Clinodactyly of the 5th finger (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the LIX1L-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	1
splice region						0
non coding	7	1	20	16	2	46
Total	7	1	20	16	3

Variants in LIX1L-AS1

This is a list of pathogenic ClinVar variants found in the LIX1L-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
1-145926616-C-CCGCT		Radial aplasia-thrombocytopenia syndrome	Pathogenic (Aug 01, 2023)
1-145926630-CG-C		Radial aplasia-thrombocytopenia syndrome	Benign (Dec 18, 2023)
1-145926631-G-T		Radial aplasia-thrombocytopenia syndrome	Pathogenic (Nov 02, 2019)
1-145926632-G-C		Radial aplasia-thrombocytopenia syndrome	Likely benign (Jun 03, 2023)
1-145926636-G-C		Radial aplasia-thrombocytopenia syndrome	Likely benign (Oct 14, 2022)
1-145926638-A-G		Radial aplasia-thrombocytopenia syndrome	Benign/Likely benign (Jan 22, 2024)
1-145926792-G-T		Radial aplasia-thrombocytopenia syndrome	Benign/Likely benign (Jan 18, 2024)
1-145926802-TACTC-T		Radial aplasia-thrombocytopenia syndrome	Pathogenic (Nov 02, 2019)
1-145926837-C-T		Radial aplasia-thrombocytopenia syndrome	Likely benign (May 06, 2022)
1-145926862-C-G		Inborn genetic diseases	Uncertain significance (Feb 16, 2023)
1-145926876-G-A		Radial aplasia-thrombocytopenia syndrome	Likely benign (Nov 23, 2022)
1-145926888-T-C			Pathogenic (Jan 25, 2022)
1-145926893-G-A		Radial aplasia-thrombocytopenia syndrome	Likely benign (Dec 09, 2023)
1-145926895-G-A		Radial aplasia-thrombocytopenia syndrome	Benign/Likely benign (Jan 02, 2024)
1-145926903-C-G		Radial aplasia-thrombocytopenia syndrome	Likely benign (Dec 17, 2023)
1-145926906-G-A		Radial aplasia-thrombocytopenia syndrome	Likely benign (Mar 01, 2024)
1-145926947-G-T		not specified	Benign (Nov 16, 2018)
1-145926996-A-AC		Radial aplasia-thrombocytopenia syndrome	Benign (Sep 21, 2023)
1-145926999-C-T		Radial aplasia-thrombocytopenia syndrome	Likely benign (Apr 12, 2023)
1-145927080-G-A		Radial aplasia-thrombocytopenia syndrome • RBM8A-related disorder	Uncertain significance (Dec 02, 2019)
1-145927081-G-A		Radial aplasia-thrombocytopenia syndrome	Likely benign (Nov 02, 2023)
1-145927083-A-G		Radial aplasia-thrombocytopenia syndrome	Benign/Likely benign (Jan 29, 2024)
1-145927092-G-A		Radial aplasia-thrombocytopenia syndrome	Likely benign (Aug 03, 2022)
1-145927095-A-G		Radial aplasia-thrombocytopenia syndrome	Likely benign (Jun 13, 2023)
1-145927267-T-A			Benign (Apr 20, 2019)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP