RFPL1S

RFPL1 antisense RNA 1, the group of Long non-coding RNAs with non-systematic symbols

Basic information

Region (hg38): 22:29409067-29478923

Previous symbols: [ "RFPL1-AS1" ]

Links

ENSG00000225465 ∙ NCBI:10740 ∙ OMIM:605972 ∙ HGNC:9978 ∙ ∙ ∙ 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 RFPL1S gene.

• Inborn genetic diseases (8 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RFPL1S 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			8			8
Total	0	0	8	0	0

Variants in RFPL1S

This is a list of pathogenic ClinVar variants found in the RFPL1S region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
22-29438916-T-C		not specified	Uncertain significance (Sep 16, 2021)
22-29438943-T-G		not specified	Uncertain significance (Mar 28, 2022)
22-29438958-G-A		not specified	Uncertain significance (May 23, 2023)
22-29438984-A-G		not specified	Uncertain significance (Sep 14, 2022)
22-29439020-C-A		not specified	Uncertain significance (Nov 28, 2023)
22-29439051-A-G		not specified	Uncertain significance (Mar 15, 2024)
22-29439143-C-T		not specified	Uncertain significance (Jan 03, 2024)
22-29441551-C-T		not specified	Uncertain significance (Mar 25, 2024)
22-29441580-C-T		not specified	Uncertain significance (Dec 03, 2021)
22-29441650-A-C		not specified	Uncertain significance (Mar 01, 2024)
22-29441667-A-G		not specified	Uncertain significance (Mar 18, 2024)
22-29441703-C-T		not specified	Uncertain significance (Apr 12, 2022)
22-29441704-G-A		not specified	Uncertain significance (Feb 06, 2024)
22-29441805-C-T		not specified	Uncertain significance (Dec 27, 2023)
22-29441806-G-A		not specified	Uncertain significance (Dec 16, 2021)
22-29441820-G-A		not specified	Uncertain significance (May 05, 2023)
22-29441890-A-C		not specified	Uncertain significance (Jan 03, 2024)
22-29442006-C-A		not specified	Uncertain significance (Feb 28, 2024)
22-29442015-T-C		not specified	Likely benign (Dec 18, 2023)
22-29442031-C-T		not specified	Uncertain significance (Oct 17, 2023)
22-29442045-A-G		not specified	Uncertain significance (May 29, 2024)
22-29442048-A-C		not specified	Uncertain significance (Dec 11, 2023)
22-29442078-C-G		not specified	Uncertain significance (Mar 01, 2024)
22-29442093-G-A		not specified	Uncertain significance (Jul 19, 2023)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP