MPDU1-AS1
Basic information
Region (hg38): 17:7581960-7584102
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
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 | |||||
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 | MPDU1-congenital disorder of glycosylation • not specified | 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:
dbNSFP
Source: