GP6-AS1

GP6 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 19:55006152-55054990

Links

ENSG00000267265 ∙ NCBI:107985325 ∙ ∙ HGNC:55305 ∙ ∙ ∙ 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 GP6-AS1 gene.

• not provided (116 variants)
• Inborn genetic diseases (42 variants)
• not specified (25 variants)
• Platelet-type bleeding disorder 11 (18 variants)
• Thrombocytopenia;Abnormal bleeding (1 variants)
• Abnormal bleeding (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the GP6-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	7	2	66	27	58	160
Total	7	2	66	27	58

Highest pathogenic variant AF is 0.0000788

Variants in GP6-AS1

This is a list of pathogenic ClinVar variants found in the GP6-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
19-55013969-G-A			Benign (Jun 20, 2021)
19-55014020-G-T			Benign (Nov 12, 2018)
19-55014086-ATCAGGGTAATTGACATAT-A			Uncertain significance (Aug 27, 2022)
19-55014101-A-G			Uncertain significance (Jun 26, 2022)
19-55014129-A-G		not specified • Platelet-type bleeding disorder 11	Benign (Jan 31, 2024)
19-55014133-A-G			Likely benign (Sep 27, 2022)
19-55014139-C-T		GP6-related disorder	Benign (Oct 22, 2023)
19-55014140-G-A		not specified	Benign (Jan 29, 2024)
19-55014146-C-T			Uncertain significance (Apr 06, 2022)
19-55014156-T-G			Benign (Jan 19, 2024)
19-55014192-C-CGGGA		GP6-related disorder	Benign (Jan 18, 2024)
19-55014200-C-A		GP6-related disorder	Uncertain significance (Aug 31, 2023)
19-55014215-C-T			Uncertain significance (Oct 04, 2022)
19-55014218-C-T		not specified	Benign (Jan 31, 2024)
19-55014228-T-C		not specified • Platelet-type bleeding disorder 11	Benign (Jan 31, 2024)
19-55014228-TG-CA			Likely benign (Oct 13, 2023)
19-55014229-G-A		GP6-related disorder	Benign (Apr 26, 2024)
19-55014258-C-A		Inborn genetic diseases	Uncertain significance (Dec 09, 2024)
19-55014263-C-G		Inborn genetic diseases	Uncertain significance (Jul 06, 2021)
19-55014278-G-GT			Uncertain significance (Mar 26, 2022)
19-55014288-T-C			Uncertain significance (Jul 23, 2022)
19-55014296-T-C		Inborn genetic diseases	Uncertain significance (Aug 12, 2021)
19-55014317-T-C		Inborn genetic diseases	Uncertain significance (Jan 31, 2024)
19-55014322-C-T		not specified • GP6-related disorder	Likely benign (Oct 14, 2023)
19-55014324-G-A		not specified	Likely benign (May 22, 2024)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP