GeneBe

RMEL3

enriched in melanoma 3, the group of Long non-coding RNAs with non-systematic symbols

Basic information

Region (hg38): 5:57395060-57534504

Links

ENSG00000250961 ∙ ∙ ∙ HGNC:53975 ∙ ∙ ∙ 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 RMEL3 gene.

  • Inborn genetic diseases (21 variants)
  • not provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RMEL3 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
20
clinvar
1
clinvar
1
clinvar
 22
Total 0 0 20 1 1

Variants in RMEL3

This is a list of pathogenic ClinVar variants found in the RMEL3 region.

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

Position Type Phenotype Significance ClinVar
5-57481597-C-T not specified Uncertain significance (Feb 07, 2023)2463923
5-57481642-T-A not specified Uncertain significance (Jul 25, 2023)2613940
5-57481654-T-C not specified Uncertain significance (Aug 16, 2021)2304752
5-57481680-C-G not specified Uncertain significance (Jan 23, 2024)3141197
5-57481680-C-T not specified Uncertain significance (Sep 17, 2021)2205231
5-57481682-A-C not specified Uncertain significance (May 05, 2023)2544368
5-57481821-G-A not specified Uncertain significance (Aug 30, 2021)2247319
5-57481827-A-C not specified Uncertain significance (Apr 17, 2024)3263640
5-57481856-C-G not specified Uncertain significance (Jan 25, 2023)2478982
5-57481857-A-G not specified Uncertain significance (Oct 06, 2021)2255992
5-57481900-T-G not specified Uncertain significance (Apr 09, 2024)3263661
5-57481915-G-C not specified Uncertain significance (Mar 18, 2024)3263631
5-57481938-C-A not specified Uncertain significance (Mar 16, 2024)3263658
5-57481998-G-A not specified Likely benign (Oct 12, 2022)2213299
5-57482076-C-G not specified Uncertain significance (Jan 26, 2022)2273623
5-57482076-C-T not specified Uncertain significance (Feb 22, 2023)2459014
5-57482083-T-C not specified Uncertain significance (Jul 25, 2023)2614199
5-57482088-C-A not specified Uncertain significance (Jul 19, 2023)2612521
5-57482175-C-A not specified Uncertain significance (Dec 14, 2022)2231626
5-57482196-G-A not specified Uncertain significance (Apr 07, 2022)2362080
5-57482208-T-C not specified Uncertain significance (Apr 06, 2024)3263625
5-57482215-G-A not specified Uncertain significance (Apr 25, 2023)2540737
5-57482340-A-G not specified Uncertain significance (Oct 06, 2021)2353138
5-57482374-T-C not specified Uncertain significance (Sep 20, 2023)3141210
5-57482401-G-A not specified Uncertain significance (May 17, 2023)2528601

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP