GeneBe

GRPEL2-AS1

GRPEL2 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 5:149348110-149358577

Links

ENSG00000253618 ∙ NCBI:106144529 ∙ ∙ HGNC:48999 ∙ ∙ ∙ 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 GRPEL2-AS1 gene.

  • Inborn genetic diseases (6 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the GRPEL2-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
2
clinvar
 6
Total 0 0 4 2 0

Variants in GRPEL2-AS1

This is a list of pathogenic ClinVar variants found in the GRPEL2-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
5-149348280-C-T not specified Likely benign (Feb 16, 2023)2466614
5-149348327-C-T not specified Uncertain significance (Nov 24, 2024)3522922
5-149348328-G-A not specified Uncertain significance (Oct 20, 2023)3102729
5-149348357-C-G not specified Uncertain significance (Nov 13, 2024)2393737
5-149348357-C-T not specified Uncertain significance (Oct 16, 2024)3522928
5-149348375-G-A not specified Uncertain significance (Sep 16, 2021)2250754
5-149348393-G-A not specified Likely benign (Aug 08, 2022)2297771
5-149349667-G-A not specified Uncertain significance (Dec 11, 2023)3102730
5-149349672-A-G not specified Likely benign (Dec 31, 2024)3855973
5-149349694-G-A not specified Uncertain significance (Dec 17, 2024)2266970
5-149350928-T-G not specified Uncertain significance (May 24, 2023)2551620
5-149350929-T-C not specified Uncertain significance (Dec 04, 2024)3522924
5-149350977-G-C not specified Uncertain significance (Nov 10, 2024)3522926
5-149350983-A-C not specified Uncertain significance (Oct 01, 2024)3522927
5-149350996-C-T not specified Uncertain significance (Nov 21, 2024)3522923
5-149351200-G-T not specified Uncertain significance (Feb 13, 2025)3855975
5-149351216-A-C not specified Uncertain significance (Nov 15, 2024)3522929
5-149351221-A-G not specified Uncertain significance (Nov 29, 2024)3522921
5-149351256-G-A not specified Uncertain significance (Feb 10, 2025)3855974
5-149358079-C-T not specified Uncertain significance (May 31, 2023)2566742
5-149358085-C-A not specified Uncertain significance (Nov 24, 2024)2363666
5-149358088-T-A not specified Uncertain significance (Jul 20, 2022)2302570
5-149358096-G-C not specified Uncertain significance (Feb 28, 2023)2491632
5-149358115-C-T not specified Uncertain significance (Apr 01, 2024)3305285
5-149358117-G-A not specified Uncertain significance (Sep 21, 2023)3210500

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP