PPM1F-AS1

PPM1F antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 22:21938269-21977632

Links

ENSG00000224086 ∙ NCBI:100286925 ∙ ∙ HGNC:40888 ∙ ∙ ∙ 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 PPM1F-AS1 gene.

• Inborn genetic diseases (36 variants)
• not provided (20 variants)
• TOP3B-related condition (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PPM1F-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			39	7	12	58
Total	0	0	39	7	12

Variants in PPM1F-AS1

This is a list of pathogenic ClinVar variants found in the PPM1F-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
22-21939548-TTCC-T			Benign (Jan 12, 2024)
22-21939563-GTCC-G			Uncertain significance (Sep 22, 2023)
22-21939572-C-T			Benign (Jan 16, 2024)
22-21939572-CTCT-C			Uncertain significance (Nov 27, 2023)
22-21939580-C-T		not specified	Uncertain significance (Dec 14, 2023)
22-21939643-C-T		not specified	Uncertain significance (Nov 09, 2022)
22-21939646-G-T		not specified	Uncertain significance (Apr 29, 2024)
22-21939657-G-A		not specified	Uncertain significance (Apr 22, 2024)
22-21945839-C-A			Benign (Jan 16, 2024)
22-21945862-T-C		not specified	Uncertain significance (Dec 14, 2023)
22-21945881-G-A			Uncertain significance (Jun 17, 2023)
22-21945909-G-A			Benign (Mar 14, 2022)
22-21945915-G-A		not specified	Uncertain significance (Jan 03, 2024)
22-21945993-G-A		not specified	Likely benign (Jan 23, 2023)
22-21946005-C-T		not specified	Uncertain significance (Dec 16, 2023)
22-21946008-C-G			Benign (Nov 17, 2023)
22-21946026-T-C			Uncertain significance (Jun 30, 2023)
22-21946032-G-A		not specified	Uncertain significance (Feb 16, 2023)
22-21946042-A-T		not specified	Uncertain significance (Jun 10, 2022)
22-21957128-C-T		not specified	Uncertain significance (Jun 02, 2023)
22-21957163-G-C		not specified	Uncertain significance (Feb 23, 2023)
22-21957193-C-T		not specified	Uncertain significance (May 24, 2024)
22-21957199-C-T		not specified	Uncertain significance (Dec 27, 2023)
22-21957209-C-T		not specified	Uncertain significance (Aug 02, 2022)
22-21957214-C-T		not specified	Uncertain significance (Mar 17, 2023)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP