ABHD15-AS1

ABHD15 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 17:29560547-29707090

Links

ENSG00000264031 ∙ ∙ ∙ HGNC:49685 ∙ ∙ ∙ 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 ABHD15-AS1 gene.

• Inborn genetic diseases (153 variants)
• not provided (10 variants)
• Ductal breast carcinoma (1 variants)
• Developmental disorder (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ABHD15-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			150	9	6	165
Total	0	0	150	9	6

Variants in ABHD15-AS1

This is a list of pathogenic ClinVar variants found in the ABHD15-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
17-29562577-C-T		not specified	Uncertain significance (Jul 14, 2022)
17-29562599-C-T		not specified	Uncertain significance (Jun 03, 2022)
17-29562619-A-G		not specified	Uncertain significance (Apr 01, 2024)
17-29562626-G-A		not specified	Uncertain significance (Aug 30, 2021)
17-29562638-C-A		not specified	Uncertain significance (May 28, 2024)
17-29562646-C-T		not specified	Uncertain significance (Jan 25, 2023)
17-29562652-C-T		not specified	Uncertain significance (Jun 29, 2022)
17-29562653-G-A		not specified	Uncertain significance (Mar 29, 2023)
17-29562659-C-T		not specified	Uncertain significance (Nov 25, 2024)
17-29562682-C-T		not specified	Uncertain significance (Apr 25, 2023)
17-29562702-C-A		not specified	Uncertain significance (Sep 02, 2024)
17-29562706-G-A		not specified	Likely benign (Aug 13, 2021)
17-29562715-A-G		not specified	Uncertain significance (Feb 17, 2023)
17-29562733-A-G		not specified	Uncertain significance (Sep 16, 2021)
17-29562759-C-G		not specified	Uncertain significance (Feb 05, 2024)
17-29562776-C-G		not specified	Uncertain significance (Jun 28, 2024)
17-29562809-G-A		not specified	Uncertain significance (Jul 19, 2022)
17-29562877-C-A		not specified	Uncertain significance (Jan 31, 2022)
17-29562884-C-T		not specified	Uncertain significance (Oct 22, 2021)
17-29562887-G-C		not specified	Uncertain significance (Aug 17, 2022)
17-29562896-C-G		not specified	Uncertain significance (Jun 03, 2022)
17-29562905-T-C		not specified	Uncertain significance (Jun 25, 2024)
17-29562910-A-G		not specified	Uncertain significance (Nov 14, 2024)
17-29562938-C-T		not specified	Uncertain significance (May 01, 2024)
17-29562946-G-A		not specified	Uncertain significance (Aug 12, 2021)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP