GK-AS1

GK antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): X:30699998-30724174

Links

ENSG00000243055 ∙ ∙ ∙ HGNC:40255 ∙ ∙ ∙ 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 GK-AS1 gene.

• not provided (18 variants)
• Inborn glycerol kinase deficiency (5 variants)
• Inborn genetic diseases (5 variants)
• not specified (2 variants)
• History of neurodevelopmental disorder (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the GK-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	6		6	4	10	26
Total	6	0	6	4	10

Variants in GK-AS1

This is a list of pathogenic ClinVar variants found in the GK-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-30700392-T-C			Benign (Mar 03, 2015)
X-30700409-A-T		History of neurodevelopmental disorder • not specified	Benign/Likely benign (Dec 31, 2019)
X-30700415-A-G		Inborn glycerol kinase deficiency	Uncertain significance (May 15, 2022)
X-30700433-G-A			Uncertain significance (Feb 13, 2025)
X-30700757-G-GAATA			Benign (Mar 03, 2015)
X-30700759-A-AAAAT			Benign (May 13, 2021)
X-30700847-G-A			Uncertain significance (Jan 18, 2025)
X-30700898-A-G		Inborn genetic diseases	Uncertain significance (Aug 28, 2023)
X-30700906-G-A			Pathogenic (Dec 13, 2021)
X-30707561-G-A		Inborn genetic diseases	Uncertain significance (Dec 03, 2024)
X-30707584-A-G		Inborn glycerol kinase deficiency	Pathogenic (May 01, 2000)
X-30707677-C-T			Benign (May 12, 2021)
X-30707806-C-T			Benign (May 12, 2021)
X-30708057-G-A			Uncertain significance (Dec 01, 2023)
X-30708066-G-GC			Pathogenic (Nov 17, 2019)
X-30708071-T-C		not specified	Likely benign (Jul 02, 2025)
X-30718638-G-T			Benign (May 13, 2021)
X-30719440-G-A		Inborn genetic diseases	Conflicting classifications of pathogenicity (Jun 13, 2023)
X-30719448-T-C			Uncertain significance (Mar 01, 2024)
X-30719477-G-A		Inborn genetic diseases • GK-related disorder	Benign/Likely benign (Dec 31, 2019)
X-30719508-G-A		Inborn genetic diseases	Likely pathogenic (Apr 24, 2024)
X-30720091-G-A			Likely pathogenic (Sep 13, 2023)
X-30720097-T-C		Inborn genetic diseases	Likely pathogenic (Jun 13, 2025)
X-30720639-C-T		Inborn glycerol kinase deficiency	Pathogenic (Aug 01, 1998)
X-30720640-G-A		Inborn genetic diseases	Uncertain significance (Jul 05, 2023)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP