PM20D1-AS1

PM20D1 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 1:205813322-205896082

Links

ENSG00000286619 ∙ NCBI:284581 ∙ ∙ HGNC:27633 ∙ ∙ ∙ 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 PM20D1-AS1 gene.

• Inborn genetic diseases (27 variants)
• not provided (4 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PM20D1-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			24	5	2	31
Total	0	0	24	5	2

Variants in PM20D1-AS1

This is a list of pathogenic ClinVar variants found in the PM20D1-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
1-205828651-T-A		not specified	Uncertain significance (Mar 25, 2024)
1-205828670-G-T		not specified	Uncertain significance (Dec 01, 2022)
1-205828682-A-C		not specified	Uncertain significance (Dec 17, 2023)
1-205828703-C-T		not specified	Uncertain significance (Mar 20, 2024)
1-205828730-T-G		not specified	Uncertain significance (Jul 12, 2023)
1-205830281-G-A		not specified	Uncertain significance (Oct 13, 2021)
1-205830326-T-A		not specified	Uncertain significance (Oct 14, 2021)
1-205830370-A-G		not specified	Uncertain significance (Sep 14, 2023)
1-205832621-G-A		not specified	Uncertain significance (Feb 06, 2023)
1-205832621-G-C		not specified	Uncertain significance (Jun 13, 2024)
1-205832628-C-T			Benign (Feb 26, 2018)
1-205832637-C-T		not specified	Likely benign (Oct 20, 2021)
1-205832645-C-T		not specified	Uncertain significance (Dec 21, 2023)
1-205832646-G-A		not specified	Uncertain significance (Sep 03, 2024)
1-205832678-G-A		not specified	Uncertain significance (Feb 16, 2023)
1-205832688-C-T		not specified	Likely benign (Aug 30, 2021)
1-205832691-G-T		not specified	Uncertain significance (Feb 21, 2024)
1-205832744-A-G			Benign (Jan 11, 2019)
1-205840281-G-A		not specified	Uncertain significance (Sep 21, 2023)
1-205840319-T-C		not specified	Uncertain significance (Mar 06, 2023)
1-205841842-G-A		not specified	Uncertain significance (Oct 04, 2024)
1-205841842-G-T		not specified	Uncertain significance (Aug 01, 2022)
1-205843670-C-T		not specified	Uncertain significance (Mar 17, 2023)
1-205843694-A-G		not specified	Uncertain significance (Sep 16, 2021)
1-205843719-A-C		not specified	Uncertain significance (Aug 15, 2023)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP