GeneBe

ANKRD65-AS1

ANKRD65 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 1:1420245-1423287

Links

ENSG00000225905 ∙ NCBI:105378585 ∙ ∙ HGNC:55844 ∙ ∙ ∙ 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 ANKRD65-AS1 gene.

  • Inborn genetic diseases (20 variants)
  • not provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ANKRD65-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)
1
clinvar
 1
splice region
0
non coding
18
clinvar
2
clinvar
 20
Total 0 0 19 2 0

Variants in ANKRD65-AS1

This is a list of pathogenic ClinVar variants found in the ANKRD65-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
1-1420263-G-A not specified Uncertain significance (Feb 13, 2024)3126934
1-1420293-G-A not specified Uncertain significance (Dec 08, 2023)3126933
1-1420300-C-T not specified Uncertain significance (May 31, 2023)2553964
1-1420315-G-C not specified Uncertain significance (Dec 17, 2023)3126932
1-1420362-G-T not specified Uncertain significance (Nov 21, 2023)3126931
1-1420389-C-T not specified Uncertain significance (Sep 15, 2021)2211294
1-1420390-C-T not specified Uncertain significance (Feb 07, 2023)2470092
1-1420459-C-T not specified Uncertain significance (May 04, 2023)2543706
1-1420479-C-G not specified Uncertain significance (Dec 21, 2022)2337935
1-1420488-C-T not specified Uncertain significance (Mar 02, 2023)2493387
1-1420513-C-T not specified Uncertain significance (Feb 01, 2023)2480507
1-1420515-C-T not specified Uncertain significance (Apr 20, 2024)3298066
1-1420524-A-C not specified Uncertain significance (Oct 12, 2021)2400469
1-1420525-G-T not specified Uncertain significance (Oct 12, 2021)2400468
1-1420536-A-G not specified Uncertain significance (Sep 26, 2022)2313215
1-1420543-C-T not specified Uncertain significance (May 05, 2023)2544256
1-1420550-C-A Likely benign (Nov 01, 2022)2638011
1-1420551-C-G not specified Uncertain significance (Aug 26, 2022)2308857
1-1420551-C-T not specified Uncertain significance (May 11, 2022)2289380
1-1420572-G-C not specified Uncertain significance (Jul 31, 2023)2614959
1-1420578-C-G not specified Uncertain significance (Feb 28, 2023)2468262
1-1420582-C-T not specified Uncertain significance (May 08, 2024)3298088
1-1420592-C-G not specified Uncertain significance (Oct 29, 2021)2257986
1-1420900-G-A not specified Uncertain significance (Dec 16, 2022)2336146
1-1420903-C-T not specified Uncertain significance (Mar 16, 2022)2278805

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP