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.

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			85	10	11	106
Total	0	0	85	10	11

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
22-21939512-T-C			Likely benign (Aug 04, 2024)
22-21939541-G-A			Uncertain significance (Jun 21, 2024)
22-21939548-TTCC-T			Benign (Jan 13, 2025)
22-21939556-C-T		not specified	Uncertain significance (Nov 26, 2024)
22-21939563-GTCC-G			Uncertain significance (Apr 29, 2024)
22-21939566-C-G			Likely benign (Oct 28, 2024)
22-21939572-C-T			Benign (Jan 23, 2025)
22-21939572-CTCT-C			Uncertain significance (Apr 29, 2024)
22-21939575-T-C			Likely benign (Jan 27, 2024)
22-21939580-C-T		not specified	Uncertain significance (Sep 27, 2024)
22-21939587-C-T			Likely benign (Apr 15, 2024)
22-21939600-C-T		not specified	Uncertain significance (Oct 19, 2024)
22-21939643-C-T		not specified	Uncertain significance (May 09, 2024)
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 (Dec 08, 2024)
22-21945862-T-C		not specified	Uncertain significance (Sep 27, 2024)
22-21945881-G-A			Uncertain significance (Jan 11, 2025)
22-21945909-G-A			Benign (Jan 01, 2025)
22-21945915-G-A		not specified	Uncertain significance (Apr 20, 2024)
22-21945921-T-C			Uncertain significance (Nov 18, 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 (Dec 17, 2024)
22-21946026-T-C			Uncertain significance (Sep 06, 2024)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP