MIF4GD-DT

MIF4GD divergent transcript, the group of Divergent transcripts

Basic information

Region (hg38): 17:75271369-75273895

Links

ENSG00000263843 ∙ NCBI:100287042 ∙ ∙ HGNC:55335 ∙ ∙ ∙ 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 MIF4GD-DT gene.

• not provided (18 variants)
• Amish lethal microcephaly (17 variants)
• not specified (6 variants)
• Progressive demyelinating neuropathy with bilateral striatal necrosis (4 variants)
• Inborn genetic diseases (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MIF4GD-DT 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	3		12	12	6	33
Total	3	0	12	12	6

Highest pathogenic variant AF is 0.0000197

Variants in MIF4GD-DT

This is a list of pathogenic ClinVar variants found in the MIF4GD-DT region.

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

Position	Type	Phenotype	Significance	ClinVar
17-75273014-A-C		Amish lethal microcephaly	Benign (Jan 12, 2018)
17-75273043-G-A		Amish lethal microcephaly	Uncertain significance (Jan 13, 2018)
17-75273067-G-A		Amish lethal microcephaly	Uncertain significance (Jan 13, 2018)
17-75273150-G-A		Amish lethal microcephaly	Likely benign (Jan 13, 2018)
17-75273159-T-C		Amish lethal microcephaly	Uncertain significance (Jan 13, 2018)
17-75273177-G-C		Amish lethal microcephaly	Benign (Jun 16, 2018)
17-75273251-C-T		Amish lethal microcephaly	Benign/Likely benign (Apr 16, 2019)
17-75273287-C-T		Amish lethal microcephaly	Benign (Mar 06, 2018)
17-75273338-C-G		Amish lethal microcephaly	Uncertain significance (Jan 13, 2018)
17-75273355-C-G		Amish lethal microcephaly	Likely benign (Sep 29, 2019)
17-75273447-G-A		SLC25A19-related disorder	Likely benign (Jan 22, 2024)
17-75273449-A-G		not specified • Amish lethal microcephaly • Progressive demyelinating neuropathy with bilateral striatal necrosis	Benign (Jul 15, 2021)
17-75273455-C-T			Uncertain significance (Aug 23, 2022)
17-75273475-C-A			Uncertain significance (Jun 24, 2022)
17-75273484-G-T		Amish lethal microcephaly	Uncertain significance (Jun 14, 2016)
17-75273496-G-A		not specified	Likely benign (Nov 08, 2022)
17-75273504-C-T		Progressive demyelinating neuropathy with bilateral striatal necrosis	Pathogenic (Jul 08, 2022)
17-75273508-C-T			Likely benign (Dec 20, 2023)
17-75273509-G-A		Inborn genetic diseases	Uncertain significance (Oct 04, 2022)
17-75273509-G-C		Inborn genetic diseases	Likely benign (Jun 25, 2021)
17-75273524-C-A		Inborn genetic diseases	Uncertain significance (Sep 26, 2023)
17-75273535-G-A			Likely benign (Jun 28, 2018)
17-75273545-A-T		Progressive demyelinating neuropathy with bilateral striatal necrosis	Pathogenic (Jul 08, 2022)
17-75273572-A-C		Amish lethal microcephaly • SLC25A19-related disorder	Conflicting classifications of pathogenicity (May 12, 2022)
17-75273576-C-T			Uncertain significance (Aug 01, 2022)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP