MIR181A1HG

MIR181A1 host gene, the group of MicroRNA non-coding host genes

Basic information

Region (hg38): 1:198739203-198937683

Links

ENSG00000229989 ∙ NCBI:100131234 ∙ ∙ HGNC:48659 ∙ ∙ ∙ 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 MIR181A1HG gene.

• not specified (5 variants)
• Acute myeloblastic leukemia with maturation (5 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MIR181A1HG 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					5	5
Total	0	0	0	0	5

Variants in MIR181A1HG

This is a list of pathogenic ClinVar variants found in the MIR181A1HG region.

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

Position	Type	Phenotype	Significance	ClinVar
1-198741851-A-G		Immunodeficiency 104	Likely benign (Nov 29, 2023)
1-198741856-A-G		not specified • Immunodeficiency 104	Likely benign (Dec 06, 2023)
1-198741863-G-A		Immunodeficiency 104	Likely benign (Jan 29, 2024)
1-198741865-C-T		Immunodeficiency 104	Likely benign (Feb 03, 2023)
1-198741883-A-C		Immunodeficiency 104	Likely benign (Dec 12, 2022)
1-198741886-T-G		Immunodeficiency 104	Likely benign (Dec 28, 2023)
1-198741904-C-T		Immunodeficiency 104	Likely benign (May 26, 2023)
1-198741916-C-T		Immunodeficiency 104	Likely benign (Mar 21, 2023)
1-198741931-C-T		Immunodeficiency 104	Likely benign (Jan 07, 2023)
1-198741932-G-A		Immunodeficiency 104 • Inborn genetic diseases	Uncertain significance (Jul 12, 2022)
1-198741937-G-A		Immunodeficiency 104	Likely benign (Jul 08, 2023)
1-198741939-C-T		Immunodeficiency 104	Uncertain significance (Dec 07, 2023)
1-198741940-T-A		Immunodeficiency 104	Likely benign (Sep 21, 2023)
1-198741943-G-A		Immunodeficiency 104	Likely benign (Jun 17, 2023)
1-198741953-T-C		Immunodeficiency 104	Likely benign (Mar 17, 2023)
1-198741955-G-C		Immunodeficiency 104 • Immunodeficiency 105 • Inborn genetic diseases • PTPRC-related disorder	Uncertain significance (Feb 23, 2023)
1-198741960-T-C		Immunodeficiency 104	Uncertain significance (Jun 28, 2019)
1-198741961-C-G		Immunodeficiency 104	Likely benign (Mar 18, 2023)
1-198741964-A-G		Immunodeficiency 104	Likely benign (Jan 25, 2024)
1-198741970-A-T		Immunodeficiency 104	Uncertain significance (May 15, 2023)
1-198741973-G-A		Immunodeficiency 104	Likely benign (May 28, 2023)
1-198741979-G-A		Immunodeficiency 104	Likely benign (Dec 17, 2023)
1-198741979-G-C		Immunodeficiency 104	Likely benign (Nov 18, 2019)
1-198741984-C-T		Immunodeficiency 104	Uncertain significance (Jul 06, 2022)
1-198741991-C-T		not specified • Immunodeficiency 104	Likely benign (Jan 18, 2024)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP