PHKA1-AS1

PHKA1 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): X:72688950-72712348

Links

ENSG00000231944 ∙ NCBI:101928259 ∙ ∙ HGNC:40446 ∙ ∙ ∙ 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 PHKA1-AS1 gene.

• Glycogen storage disease IXd (13 variants)
• not provided (3 variants)
• not specified (2 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 PHKA1-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		1	8	4	3	16
Total	0	1	8	4	3

Variants in PHKA1-AS1

This is a list of pathogenic ClinVar variants found in the PHKA1-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-72695696-C-T		Glycogen storage disease IXd	Likely benign (Oct 24, 2023)
X-72695716-G-A		Glycogen storage disease IXd	Uncertain significance (Jul 09, 2022)
X-72695717-T-C		Inborn genetic diseases	Uncertain significance (Jul 15, 2021)
X-72695720-T-C		Glycogen storage disease IXd	Uncertain significance (May 06, 2019)
X-72695732-A-C		not specified • Glycogen storage disease IXd	Likely benign (Oct 17, 2023)
X-72695733-G-A		not specified • Glycogen storage disease IXd	Benign (Jan 31, 2024)
X-72695736-C-T		Glycogen storage disease IXd	Likely benign (Dec 27, 2022)
X-72695773-C-T		Glycogen storage disease IXd	Pathogenic (Aug 11, 2023)
X-72695775-T-C		Glycogen storage disease IXd	Likely benign (Jan 28, 2023)
X-72695778-A-G		Glycogen storage disease IXd	Likely benign (Jun 28, 2022)
X-72695781-A-G		Glycogen storage disease IXd	Benign (Oct 17, 2023)
X-72695800-C-T		Inborn genetic diseases	Uncertain significance (May 04, 2022)
X-72695840-T-C		Inborn genetic diseases	Uncertain significance (May 21, 2024)
X-72695847-A-C		Glycogen storage disease IXd	Uncertain significance (Jun 04, 2021)
X-72695856-G-T			Uncertain significance (Sep 01, 2022)
X-72695859-G-A		Glycogen storage disease IXd	Likely benign (Jul 23, 2022)
X-72695885-A-G		Glycogen storage disease IXd	Likely benign (Aug 16, 2022)
X-72705191-A-G		Glycogen storage disease IXd	Likely benign (Nov 10, 2022)
X-72705193-C-T		Glycogen storage disease IXd	Uncertain significance (Feb 18, 2023)
X-72705203-T-G		Glycogen storage disease IXd	Likely benign (Sep 27, 2023)
X-72705208-A-G		Glycogen storage disease IXd	Uncertain significance (Aug 02, 2020)
X-72705247-T-A		Glycogen storage disease IXd	Likely pathogenic (Jul 17, 2022)
X-72705249-C-T		Glycogen storage disease IXd	Benign (Dec 23, 2023)
X-72705259-T-G		Glycogen storage disease IXd	Likely benign (Dec 18, 2023)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP