HAGLR

HOXD antisense growth-associated long non-coding RNA, the group of Long non-coding RNAs with non-systematic symbols

Basic information

Region (hg38): 2:176164051-176189421

Previous symbols: [ "HOXD-AS1" ]

Links

ENSG00000224189 ∙ NCBI:401022 ∙ OMIM:618209 ∙ HGNC:43755 ∙ ∙ ∙ 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 HAGLR gene.

• Inborn genetic diseases (22 variants)
• not provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the HAGLR 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			22		1	23
Total	0	0	22	0	1

Variants in HAGLR

This is a list of pathogenic ClinVar variants found in the HAGLR region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
2-176169182-A-G		not specified	Uncertain significance (Jul 21, 2022)
2-176169265-C-A		not specified	Uncertain significance (Jun 09, 2022)
2-176169267-A-C			Benign (Apr 03, 2018)
2-176169387-G-A		not specified	Uncertain significance (Nov 28, 2023)
2-176169389-G-A		not specified	Uncertain significance (Mar 29, 2023)
2-176169415-G-C		not specified	Uncertain significance (Aug 22, 2023)
2-176169424-G-A		not specified	Likely benign (Oct 13, 2023)
2-176169472-C-G		not specified	Uncertain significance (Dec 21, 2022)
2-176169485-C-T		not specified	Uncertain significance (Oct 12, 2021)
2-176169487-A-C		not specified	Uncertain significance (Aug 13, 2021)
2-176169547-G-A		not specified	Uncertain significance (Feb 15, 2023)
2-176169569-C-G		not specified	Uncertain significance (Apr 12, 2022)
2-176169653-C-A		not specified	Uncertain significance (Aug 12, 2021)
2-176171534-A-C		not specified	Uncertain significance (May 31, 2023)
2-176171625-G-C		not specified	Uncertain significance (Mar 31, 2023)
2-176171721-A-G		not specified	Uncertain significance (Jun 17, 2024)
2-176171768-C-G		not specified	Uncertain significance (Jul 05, 2023)
2-176171813-G-C		not specified	Uncertain significance (Mar 23, 2022)
2-176171826-G-A		not specified	Uncertain significance (Oct 12, 2021)
2-176171862-C-A		not specified	Uncertain significance (Dec 20, 2021)
2-176171865-C-A		not specified	Uncertain significance (Mar 29, 2023)
2-176171867-T-C		not specified	Uncertain significance (Jan 17, 2024)
2-176171934-G-A		not specified	Uncertain significance (Mar 01, 2023)
2-176171954-A-G		not specified	Uncertain significance (Oct 21, 2021)
2-176171963-G-A		not specified	Uncertain significance (Feb 15, 2023)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP