MPDU1-AS1

MPDU1 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 17:7581960-7584102

Links

ENSG00000233223NCBI:100996842HGNC:40379GenCCjaxSfariGnomADPubmedClinVar

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
clinvar
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)325508
17-7583724-G-A Congenital disorder of glycosylation Uncertain significance (Jun 14, 2016)325509
17-7583755-G-A Congenital disorder of glycosylation Uncertain significance (Jun 14, 2016)325510
17-7583790-A-G Congenital disorder of glycosylation Benign/Likely benign (Jun 29, 2018)325511
17-7583827-C-T Congenital disorder of glycosylation • not specified Conflicting classifications of pathogenicity (Dec 21, 2016)325512
17-7583829-G-A not specified Likely benign (Feb 11, 2016)382610
17-7583864-T-C MPDU1-congenital disorder of glycosylation Pathogenic (Dec 01, 2001)5869
17-7583872-G-A MPDU1-congenital disorder of glycosylation Uncertain significance (May 23, 2018)570180
17-7583874-G-A MPDU1-congenital disorder of glycosylation • not specified Likely benign (Aug 13, 2024)389197
17-7583881-G-T MPDU1-congenital disorder of glycosylation • Inborn genetic diseases Conflicting classifications of pathogenicity (Apr 18, 2024)684508
17-7583885-C-T Inborn genetic diseases Likely benign (Aug 02, 2021)2240105
17-7583886-G-C Likely benign (Mar 29, 2018)703002
17-7583898-G-A MPDU1-related disorder Likely benign (May 08, 2019)3352747
17-7583905-C-T MPDU1-congenital disorder of glycosylation • not specified Conflicting classifications of pathogenicity (Dec 13, 2023)325513
17-7583915-T-C MPDU1-congenital disorder of glycosylation • Inborn genetic diseases Uncertain significance (Aug 30, 2022)889661
17-7583918-C-T Inborn genetic diseases Uncertain significance (Dec 08, 2023)3201147
17-7583928-C-G MPDU1-congenital disorder of glycosylation Uncertain significance (Oct 28, 2018)1034127
17-7583930-AC-A MPDU1-congenital disorder of glycosylation Likely pathogenic (Jan 03, 2022)1333683
17-7583943-C-A Inborn genetic diseases Uncertain significance (Feb 05, 2025)3874097
17-7583946-T-C MPDU1-congenital disorder of glycosylation Uncertain significance (Jan 12, 2018)889662
17-7583953-G-C Inborn genetic diseases Uncertain significance (Feb 16, 2023)2465500
17-7583984-C-T MPDU1-congenital disorder of glycosylation Likely benign (Feb 04, 2022)1582606
17-7584067-T-C Likely benign (May 19, 2021)1325936

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP