RNASEH2B-AS1

RNASEH2B antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 13:50862172-50910789

Links

ENSG00000233672 ∙ NCBI:100874255 ∙ ∙ HGNC:39967 ∙ ∙ ∙ 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 RNASEH2B-AS1 gene.

• Aicardi-Goutieres syndrome 2 (40 variants)
• not provided (10 variants)
• Inborn genetic diseases (2 variants)
• RNASEH2B-related condition (1 variants)
• not specified (1 variants)
• Aicardi Goutieres syndrome (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RNASEH2B-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	2	26	14	3	48
Total	3	2	26	14	3

Variants in RNASEH2B-AS1

This is a list of pathogenic ClinVar variants found in the RNASEH2B-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
13-50909488-C-G			Likely benign (May 26, 2021)
13-50909575-A-G			Benign (May 22, 2021)
13-50909678-C-G		Aicardi-Goutieres syndrome 2	Uncertain significance (Jan 13, 2018)
13-50909764-C-G		Aicardi Goutieres syndrome	Uncertain significance (Jun 14, 2016)
13-50909783-C-T		Aicardi-Goutieres syndrome 2	Uncertain significance (Jan 13, 2018)
13-50909784-A-G		Aicardi-Goutieres syndrome 2	Uncertain significance (Mar 02, 2018)
13-50909849-C-A		Aicardi-Goutieres syndrome 2	Uncertain significance (Jan 13, 2018)
13-50909867-G-C		Aicardi-Goutieres syndrome 2	Benign/Likely benign (Apr 29, 2021)
13-50909896-G-A		Aicardi-Goutieres syndrome 2	Uncertain significance (Jan 13, 2018)
13-50909932-G-A		Aicardi-Goutieres syndrome 2	Uncertain significance (Jan 12, 2018)
13-50909960-C-G		Aicardi-Goutieres syndrome 2	Likely benign (Jan 13, 2018)
13-50909965-C-T		Aicardi-Goutieres syndrome 2	Likely benign (May 26, 2021)
13-50909970-G-A		Aicardi-Goutieres syndrome 2	Uncertain significance (Jan 12, 2018)
13-50910073-CGGCATG-C		Aicardi-Goutieres syndrome 2	Uncertain significance (Oct 14, 2021)
13-50910078-T-C		Aicardi-Goutieres syndrome 2	Conflicting classifications of pathogenicity (Sep 01, 2021)
13-50910078-TG-T		Aicardi-Goutieres syndrome 2	Pathogenic (Aug 31, 2022)
13-50910079-G-A			Pathogenic (May 16, 2016)
13-50910080-G-C		Aicardi-Goutieres syndrome 2	Uncertain significance (Oct 25, 2022)
13-50910082-C-G		Aicardi-Goutieres syndrome 2	Likely benign (Aug 16, 2023)
13-50910085-T-G		Aicardi-Goutieres syndrome 2	Likely benign (Jun 20, 2023)
13-50910088-C-G		Aicardi-Goutieres syndrome 2	Likely benign (Mar 09, 2023)
13-50910091-G-T		Aicardi-Goutieres syndrome 2	Likely benign (Oct 13, 2023)
13-50910092-G-T		Aicardi-Goutieres syndrome 2	Uncertain significance (Apr 21, 2022)
13-50910094-C-T		Aicardi-Goutieres syndrome 2 • RNASEH2B-related disorder	Conflicting classifications of pathogenicity (Jan 19, 2023)
13-50910096-G-A		Aicardi-Goutieres syndrome 2	Uncertain significance (Aug 23, 2022)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP