GeneBe

HM13-AS1

HM13 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 20:31567562-31573263

Links

ENSG00000230613 ∙ ∙ ∙ HGNC:41940 ∙ ∙ ∙ 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 HM13-AS1 gene.

  • Inborn genetic diseases (4 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the HM13-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
4
clinvar
 4
Total 0 0 4 0 0

Variants in HM13-AS1

This is a list of pathogenic ClinVar variants found in the HM13-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
20-31568092-C-T not specified Uncertain significance (Jul 17, 2024)3525853
20-31568163-G-A not specified Uncertain significance (Oct 01, 2024)2370086
20-31568176-A-C not specified Uncertain significance (Jan 03, 2024)3106188
20-31568196-C-T not specified Uncertain significance (Jul 27, 2024)3525851
20-31568203-G-A not specified Uncertain significance (Aug 28, 2023)2603355
20-31568206-C-T not specified Uncertain significance (Oct 21, 2024)2377530
20-31568220-G-A not specified Uncertain significance (Apr 22, 2022)2372421

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP