LILRB1-AS1

LILRB1 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 19:54635722-54638892

Links

ENSG00000224730 ∙ ∙ ∙ HGNC:53114 ∙ ∙ ∙ 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 LILRB1-AS1 gene.

• Inborn genetic diseases (11 variants)
• not provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the LILRB1-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			11		1	12
Total	0	0	11	0	1

Variants in LILRB1-AS1

This is a list of pathogenic ClinVar variants found in the LILRB1-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
19-54636494-C-A		not specified	Uncertain significance (Mar 06, 2023)
19-54636506-G-A		not specified	Uncertain significance (Jun 02, 2023)
19-54636509-G-A		not specified	Uncertain significance (Oct 26, 2021)
19-54636558-G-A		not specified	Uncertain significance (Jul 27, 2024)
19-54636578-C-G		not specified	Uncertain significance (Nov 26, 2024)
19-54636584-C-T		not specified	Uncertain significance (Mar 31, 2023)
19-54636591-C-G		not specified	Uncertain significance (Jan 31, 2023)
19-54636624-C-T		not specified	Uncertain significance (Jan 31, 2024)
19-54636626-G-A		not specified	Uncertain significance (May 10, 2023)
19-54636630-A-G		not specified	Uncertain significance (Aug 28, 2024)
19-54636640-G-T		not specified	Uncertain significance (May 10, 2024)
19-54636642-T-G		not specified	Uncertain significance (Feb 05, 2024)
19-54636735-G-A		not specified	Uncertain significance (May 09, 2022)
19-54636748-C-T		not specified	Uncertain significance (Dec 18, 2023)
19-54636772-A-G		not specified	Uncertain significance (Dec 04, 2024)
19-54636796-G-A		not specified	Uncertain significance (Jul 30, 2023)
19-54636798-G-A			Benign (Feb 24, 2021)
19-54636802-C-G		not specified	Uncertain significance (Sep 23, 2023)
19-54636814-C-A		not specified	Uncertain significance (Sep 14, 2022)
19-54636850-G-A		not specified	Uncertain significance (Dec 21, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
LILRB1-AS1	protein_coding	protein_coding	ENST00000456337	2	3171

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0104	0.400	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.470	26	33.7	0.772	0.00000203	392
Missense in Polyphen
Synonymous	-0.0676	16	15.7	1.02	8.48e-7	160
Loss of Function	-1.64	2	0.612	3.27	2.57e-8	10

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP