RNF217-AS1

RNF217 antisense RNA 1 (head to head), the group of Antisense RNAs

Basic information

Region (hg38): 6:124644434-124963587

Links

ENSG00000236548

∙ NCBI:7955 ∙ OMIM:602532 ∙ HGNC:50866 ∙ ∙ ∙ 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 RNF217-AS1 gene.

Inborn genetic diseases (3 variants)
not provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RNF217-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			3 clinvar	1 clinvar		4
Total	0	0	3	1	0

Variants in RNF217-AS1

This is a list of pathogenic ClinVar variants found in the RNF217-AS1 region.

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

Position	Phenotype	Significance	ClinVar
6-124658252-G-A	not specified	Uncertain significance (May 06, 2024)	3299847
6-124658384-G-A	not specified	Uncertain significance (Apr 27, 2022)	2286386
6-124791376-G-C	not specified	Uncertain significance (Sep 27, 2021)	2249077
6-124818398-G-T	not specified	Uncertain significance (Jun 24, 2022)	2215747
6-124818478-T-C		Likely benign (May 30, 2018)	744576
6-124823221-T-C	not specified	Uncertain significance (May 23, 2024)	3299848

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP