RN7SKP23

RN7SK pseudogene 23

Basic information

Region (hg38): 16:23412380-23416680

Links

ENSG00000280039 ∙ NCBI:106479105 ∙ ∙ HGNC:45747 ∙ ∙ ∙ 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 RN7SKP23 gene.

• COG7 congenital disorder of glycosylation (19 variants)
• not provided (5 variants)
• Inborn genetic diseases (3 variants)
• not specified (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RN7SKP23 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	1		8	12	1	22
Total	1	0	8	12	1

Variants in RN7SKP23

This is a list of pathogenic ClinVar variants found in the RN7SKP23 region.

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

Position	Type	Phenotype	Significance	ClinVar
16-23413246-G-A			Likely benign (Mar 31, 2020)
16-23413433-C-T		COG7 congenital disorder of glycosylation	Likely benign (Oct 03, 2023)
16-23413440-C-T		not specified • COG7 congenital disorder of glycosylation • COG7-related disorder	Likely benign (Nov 09, 2024)
16-23413441-G-A		COG7 congenital disorder of glycosylation	Likely benign (Jan 08, 2025)
16-23413441-G-C		not specified • COG7 congenital disorder of glycosylation • COG7-related disorder	Likely benign (Oct 31, 2024)
16-23413442-G-C		COG7 congenital disorder of glycosylation • Inborn genetic diseases	Uncertain significance (Oct 22, 2024)
16-23413452-T-C		COG7 congenital disorder of glycosylation • Inborn genetic diseases	Conflicting classifications of pathogenicity (Jun 07, 2024)
16-23413456-G-C		COG7 congenital disorder of glycosylation	Uncertain significance (May 04, 2022)
16-23413468-C-T		COG7 congenital disorder of glycosylation	Likely benign (Aug 16, 2023)
16-23413469-G-A		COG7 congenital disorder of glycosylation • Inborn genetic diseases	Uncertain significance (Sep 26, 2024)
16-23413474-A-G		COG7 congenital disorder of glycosylation	Likely benign (Mar 23, 2022)
16-23413481-TG-T		COG7 congenital disorder of glycosylation	Pathogenic (Apr 17, 2024)
16-23413492-G-A		COG7 congenital disorder of glycosylation	Likely benign (Jul 17, 2022)
16-23413492-G-T		Inborn genetic diseases	Uncertain significance (Dec 28, 2024)
16-23413493-T-C		Inborn genetic diseases	Uncertain significance (Jan 17, 2025)
16-23413522-C-G		Inborn genetic diseases	Uncertain significance (Oct 12, 2022)
16-23413527-G-A		COG7 congenital disorder of glycosylation	Pathogenic/Likely pathogenic (Mar 08, 2024)
16-23413536-G-A			Pathogenic (Sep 29, 2020)
16-23413546-G-A		COG7 congenital disorder of glycosylation	Likely benign (Oct 16, 2023)
16-23413550-A-C		COG7 congenital disorder of glycosylation	Uncertain significance (Dec 11, 2023)
16-23413552-A-G		COG7 congenital disorder of glycosylation	Conflicting classifications of pathogenicity (Nov 20, 2024)
16-23413564-C-A		COG7 congenital disorder of glycosylation	Uncertain significance (Aug 10, 2022)
16-23413564-C-T		COG7 congenital disorder of glycosylation • Inborn genetic diseases	Conflicting classifications of pathogenicity (Jun 30, 2023)
16-23413568-C-T		COG7 congenital disorder of glycosylation	Likely benign (Oct 02, 2023)
16-23413569-C-T		COG7 congenital disorder of glycosylation	Uncertain significance (Jul 11, 2022)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP