MIF-AS1

MIF antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 22:23894426-23898930

Links

ENSG00000218537 ∙ NCBI:284889 ∙ ∙ HGNC:27669 ∙ ∙ ∙ 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 MIF-AS1 gene.

• Inborn genetic diseases (5 variants)
• not provided (4 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MIF-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			7		2	9
Total	0	0	7	0	2

Variants in MIF-AS1

This is a list of pathogenic ClinVar variants found in the MIF-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
22-23894479-C-G			Uncertain significance (Jun 01, 2023)
22-23894557-C-T		not specified	Uncertain significance (Aug 16, 2022)
22-23894574-C-A		not specified	Uncertain significance (Dec 27, 2022)
22-23894805-A-C		not specified	Uncertain significance (Jun 26, 2024)
22-23894805-A-G		not specified	Uncertain significance (Apr 18, 2023)
22-23894817-G-T		not specified	Uncertain significance (Sep 03, 2024)
22-23894835-G-A			Uncertain significance (Feb 28, 2018)
22-23894858-C-G		not specified	Uncertain significance (Jul 25, 2023)
22-23894867-C-A		MIF-related disorder	Likely benign (Apr 08, 2019)
22-23894883-C-G		not specified	Uncertain significance (Oct 05, 2023)
22-23894884-G-T		not specified	Uncertain significance (May 03, 2023)
22-23894887-C-T		MIF-related disorder	Likely benign (Feb 03, 2022)
22-23895031-C-T			Benign (Aug 08, 2018)
22-23895033-C-A			Benign (Aug 16, 2018)
22-23895034-C-G		MIF-related disorder	Benign (Oct 18, 2019)
22-23895078-T-A		not specified	Uncertain significance (Oct 29, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MIF-AS1	protein_coding	protein_coding	ENST00000406213	2	4505

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.405	0.479	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.123	107	111	0.967	0.00000535	1171
Missense in Polyphen
Synonymous	-0.153	46	44.7	1.03	0.00000221	418
Loss of Function	0.973	0	1.10	0.00	4.71e-8	12

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

Haploinsufficiency Scores

• ghis: 0.485