MPDU1-AS1

MPDU1 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 17:7581960-7584102

Links

ENSG00000233223 ∙ NCBI:100996842 ∙ ∙ HGNC:40379 ∙ ∙ ∙ 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 MPDU1-AS1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MPDU1-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			1			1
Total	0	0	1	0	0

Variants in MPDU1-AS1

This is a list of pathogenic ClinVar variants found in the MPDU1-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
17-7583681-G-C		Congenital disorder of glycosylation	Uncertain significance (Jun 14, 2016)
17-7583724-G-A		Congenital disorder of glycosylation	Uncertain significance (Jun 14, 2016)
17-7583755-G-A		Congenital disorder of glycosylation	Uncertain significance (Jun 14, 2016)
17-7583790-A-G		Congenital disorder of glycosylation	Benign/Likely benign (Jun 29, 2018)
17-7583827-C-T		Congenital disorder of glycosylation • not specified	Conflicting classifications of pathogenicity (Dec 21, 2016)
17-7583829-G-A		not specified	Likely benign (Feb 11, 2016)
17-7583864-T-C		MPDU1-congenital disorder of glycosylation	Pathogenic (Dec 01, 2001)
17-7583872-G-A		MPDU1-congenital disorder of glycosylation	Uncertain significance (May 23, 2018)
17-7583874-G-A		not specified • MPDU1-congenital disorder of glycosylation	Likely benign (Aug 13, 2024)
17-7583881-G-T		MPDU1-congenital disorder of glycosylation • Inborn genetic diseases	Conflicting classifications of pathogenicity (Apr 18, 2024)
17-7583885-C-T		Inborn genetic diseases	Likely benign (Aug 02, 2021)
17-7583886-G-C			Likely benign (Mar 29, 2018)
17-7583898-G-A		MPDU1-related disorder	Likely benign (May 08, 2019)
17-7583905-C-T		MPDU1-congenital disorder of glycosylation • not specified	Conflicting classifications of pathogenicity (Dec 13, 2023)
17-7583915-T-C		MPDU1-congenital disorder of glycosylation • Inborn genetic diseases	Uncertain significance (Aug 30, 2022)
17-7583918-C-T		Inborn genetic diseases	Uncertain significance (Dec 08, 2023)
17-7583928-C-G		MPDU1-congenital disorder of glycosylation	Uncertain significance (Oct 28, 2018)
17-7583930-AC-A		MPDU1-congenital disorder of glycosylation	Likely pathogenic (Jan 03, 2022)
17-7583943-C-A		Inborn genetic diseases	Uncertain significance (Feb 05, 2025)
17-7583946-T-C		MPDU1-congenital disorder of glycosylation	Uncertain significance (Jan 12, 2018)
17-7583953-G-C		Inborn genetic diseases	Uncertain significance (Feb 16, 2023)
17-7583984-C-T		MPDU1-congenital disorder of glycosylation	Likely benign (Feb 04, 2022)
17-7584067-T-C			Likely benign (May 19, 2021)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP