GeneBe

SLC39A13-AS1

SLC39A13 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 11:47381509-47409369

Links

ENSG00000255197 ∙ ∙ ∙ HGNC:56351 ∙ ∙ ∙ 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 SLC39A13-AS1 gene.

  • not provided (3 variants)
  • not specified (2 variants)
  • Ehlers-Danlos syndrome, spondylocheirodysplastic type (1 variants)
  • Ehlers-Danlos syndrome (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SLC39A13-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
2
clinvar
2
clinvar
 7
Total 0 0 3 2 2

Variants in SLC39A13-AS1

This is a list of pathogenic ClinVar variants found in the SLC39A13-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
11-47395561-C-CG Benign (Aug 01, 2024)3250508
11-47408638-G-C not specified Likely benign (Oct 23, 2017)512793
11-47408639-G-T not specified Likely benign (Mar 09, 2018)390363
11-47408641-T-TCGC Benign (May 30, 2018)517012
11-47408665-G-A Ehlers-Danlos syndrome Uncertain significance (Dec 11, 2020)1702276
11-47408665-G-T Uncertain significance (May 30, 2017)432424
11-47408907-T-C Benign (Jun 23, 2018)1239745
11-47408918-T-C Ehlers-Danlos syndrome, spondylocheirodysplastic type Uncertain significance (Jan 22, 2021)2436025

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP