GPC6-AS2

GPC6 antisense RNA 2, the group of Antisense RNAs

Basic information

Region (hg38): 13:93818424-93836144

Links

ENSG00000224394 ∙ ∙ ∙ HGNC:39910 ∙ ∙ ∙ 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 GPC6-AS2 gene.

• not provided (33 variants)
• Autosomal recessive omodysplasia (4 variants)
• Inborn genetic diseases (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the GPC6-AS2 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	3		19	8	8	38
Total	3	0	19	8	8

Highest pathogenic variant AF is 0.0000197

Variants in GPC6-AS2

This is a list of pathogenic ClinVar variants found in the GPC6-AS2 region.

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

Position	Type	Phenotype	Significance	ClinVar
13-93829971-A-G			Benign (May 16, 2021)
13-93830148-C-G			Uncertain significance (Jun 28, 2016)
13-93830150-G-T			Likely benign (Aug 31, 2022)
13-93830163-G-A		Inborn genetic diseases	Uncertain significance (Jun 07, 2024)
13-93830165-G-A		Inborn genetic diseases	Uncertain significance (Nov 18, 2022)
13-93830168-C-T		Inborn genetic diseases	Uncertain significance (Dec 19, 2023)
13-93830210-C-T			Uncertain significance (Aug 31, 2021)
13-93830221-C-T		GPC6-related disorder	Likely benign (Jun 24, 2019)
13-93830255-G-C			Uncertain significance (Mar 13, 2022)
13-93830263-CACAGAGCTGAAAAGGTACT-C			Pathogenic (Aug 31, 2020)
13-93830269-G-A			Likely benign (Apr 19, 2022)
13-93830286-C-A			Uncertain significance (Mar 11, 2022)
13-93830287-T-G			Likely benign (Oct 22, 2021)
13-93830289-G-C			Uncertain significance (Jul 25, 2022)
13-93830308-G-A			Likely benign (Feb 27, 2020)
13-93830319-A-G		Autosomal recessive omodysplasia • Inborn genetic diseases	Uncertain significance (Apr 20, 2024)
13-93830334-G-A			Uncertain significance (Mar 28, 2022)
13-93830344-A-G			Likely benign (Jul 16, 2021)
13-93830345-C-T			Pathogenic (Nov 15, 2021)
13-93830346-G-A			Uncertain significance (Apr 13, 2021)
13-93830382-G-T			Uncertain significance (Jul 05, 2022)
13-93830410-A-G			Likely benign (May 20, 2023)
13-93830412-A-T		Inborn genetic diseases	Uncertain significance (Dec 28, 2023)
13-93830419-C-T		Autosomal recessive omodysplasia	Uncertain significance (Jan 12, 2018)
13-93830428-G-A			Benign (May 15, 2023)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP