R3HDML-AS1

R3HDML antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 20:44338363-44355597

Links

ENSG00000226812 ∙ NCBI:105372629 ∙ ∙ HGNC:55830 ∙ ∙ ∙ 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 R3HDML-AS1 gene.

• Inborn genetic diseases (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the R3HDML-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			2			2
Total	0	0	2	0	0

Variants in R3HDML-AS1

This is a list of pathogenic ClinVar variants found in the R3HDML-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
20-44341199-T-A		not specified	Uncertain significance (Sep 20, 2023)
20-44341221-C-A		not specified	Uncertain significance (Apr 07, 2022)
20-44341311-G-A		not specified	Uncertain significance (Sep 26, 2022)
20-44343474-C-T		not specified	Uncertain significance (Oct 13, 2023)
20-44343480-G-A		not specified	Uncertain significance (Jul 14, 2021)
20-44343499-A-G		not specified	Uncertain significance (Nov 18, 2022)
20-44343499-A-T		not specified	Uncertain significance (Mar 25, 2024)
20-44345266-G-A		not specified	Uncertain significance (Feb 15, 2023)
20-44345324-T-G		not specified	Uncertain significance (Jul 19, 2023)
20-44345371-G-A		not specified	Uncertain significance (Oct 05, 2023)
20-44350667-T-G		not specified	Uncertain significance (Mar 28, 2024)
20-44350676-G-A		not specified	Uncertain significance (Nov 12, 2021)
20-44350683-C-T		not specified	Uncertain significance (May 31, 2023)
20-44355221-A-T		not specified	Uncertain significance (May 31, 2019)
20-44355240-T-C		not specified • Maturity onset diabetes mellitus in young	Conflicting classifications of pathogenicity (Oct 31, 2016)
20-44355379-C-G		not specified	Uncertain significance (Mar 16, 2018)
20-44355404-G-A		not specified • Maturity onset diabetes mellitus in young	Conflicting classifications of pathogenicity (Jul 15, 2018)
20-44355427-T-A		not specified	Uncertain significance (Jun 15, 2018)
20-44355527-G-A		not specified • Maturity onset diabetes mellitus in young	Benign/Likely benign (Sep 19, 2019)
20-44355529-G-T		not specified	Benign (May 02, 2017)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP