PHKA2-AS1

PHKA2 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): X:18890296-18894974

Links

ENSG00000237836 ∙ NCBI:100132163 ∙ ∙ HGNC:44110 ∙ ∙ ∙ 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 PHKA2-AS1 gene.

• Glycogen storage disease IXa1 (28 variants)
• not provided (11 variants)
• not specified (6 variants)
• Inborn genetic diseases (3 variants)
• Glycogen storage disease IXa2 (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PHKA2-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	6	16	14	1	41
Total	4	6	16	14	1

Variants in PHKA2-AS1

This is a list of pathogenic ClinVar variants found in the PHKA2-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
X-18893485-C-G		Glycogen storage disease IXa1	Uncertain significance (Jan 19, 2022)
X-18893488-T-C		not specified • Glycogen storage disease IXa1	Benign (Sep 26, 2023)
X-18893503-C-G		Glycogen storage disease IXa1	Likely benign (Apr 17, 2023)
X-18893528-T-G		Glycogen storage disease IXa1 • Inborn genetic diseases	Likely benign (Dec 26, 2023)
X-18893546-G-GTT		Glycogen storage disease IXa1	Conflicting classifications of pathogenicity (Mar 31, 2021)
X-18893546-G-GTTA		Glycogen storage disease IXa1	Likely pathogenic (Jun 28, 2019)
X-18893564-C-T		Glycogen storage disease IXa1	Pathogenic/Likely pathogenic (Dec 21, 2023)
X-18893565-C-T		Glycogen storage disease IXa1	Uncertain significance (Nov 11, 2019)
X-18893573-C-T		Inborn genetic diseases	Uncertain significance (Oct 03, 2023)
X-18893578-C-G		Glycogen storage disease IXa1	Likely benign (Dec 12, 2023)
X-18893578-C-T		not specified • PHKA2-related disorder • Glycogen storage disease IXa1	Likely benign (Dec 19, 2023)
X-18893579-G-A		Glycogen storage disease IXa1	Pathogenic (Sep 14, 2023)
X-18893591-TAAA-T			Likely pathogenic (Feb 09, 2018)
X-18893592-A-G		not specified	Uncertain significance (Jul 08, 2024)
X-18893603-C-A		Glycogen storage disease IXa1 • Inborn genetic diseases	Uncertain significance (Nov 12, 2021)
X-18893626-C-T		Glycogen storage disease IXa1	Likely benign (Jul 03, 2021)
X-18893628-C-T		PHKA2-related disorder	Likely benign (Jan 17, 2022)
X-18893636-T-G		Glycogen storage disease IXa1	Uncertain significance (Nov 24, 2023)
X-18893649-T-C		not specified	Uncertain significance (Oct 12, 2023)
X-18894212-G-A		Glycogen storage disease IXa1	Pathogenic (Oct 15, 2020)
X-18894219-C-T			Likely benign (Apr 02, 2018)
X-18894225-A-C		Glycogen storage disease IXa1	Uncertain significance (Aug 23, 2022)
X-18894230-C-CCAT			Uncertain significance (Jun 01, 2024)
X-18894232-A-G		not specified • Glycogen storage disease IXa1 • PHKA2-related disorder • Inborn genetic diseases	Benign/Likely benign (Dec 30, 2023)
X-18894234-C-T		Glycogen storage disease IXa1	Likely benign (Oct 04, 2022)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP