CASK-AS1

CASK antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): X:41520036-41522336

Links

ENSG00000233033 ∙ ∙ ∙ HGNC:40126 ∙ ∙ ∙ 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 CASK-AS1 gene.

• Intellectual disability, CASK-related, X-linked (18 variants)
• not provided (11 variants)
• FG syndrome 4 (3 variants)
• Syndromic X-linked intellectual disability Najm type (2 variants)
• Inborn genetic diseases (2 variants)
• CASK-related condition (1 variants)
• Global developmental delay (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CASK-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	2	15	11	2	34
Total	4	2	15	11	2

Variants in CASK-AS1

This is a list of pathogenic ClinVar variants found in the CASK-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-41520420-C-T		Inborn genetic diseases	Likely benign (Jun 29, 2017)
X-41520424-T-C		Intellectual disability, CASK-related, X-linked	Uncertain significance (Aug 03, 2019)
X-41520424-T-TTA			Uncertain significance (Jan 19, 2023)
X-41520434-A-T		Intellectual disability, CASK-related, X-linked	Uncertain significance (Apr 25, 2023)
X-41520444-C-T			Pathogenic (Mar 07, 2018)
X-41520446-A-G		FG syndrome 4	Pathogenic (May 01, 2010)
X-41520447-C-T		Intellectual disability, CASK-related, X-linked	Likely benign (Apr 16, 2022)
X-41520450-T-C		Intellectual disability, CASK-related, X-linked	Likely benign (Jun 23, 2022)
X-41520458-T-C			Uncertain significance (Mar 05, 2020)
X-41520460-C-T		Intellectual disability, CASK-related, X-linked	Uncertain significance (Mar 18, 2022)
X-41520464-C-T			Uncertain significance (May 27, 2022)
X-41520465-G-A		Intellectual disability, CASK-related, X-linked	Benign (Apr 08, 2022)
X-41520467-G-A		Intellectual disability, CASK-related, X-linked • FG syndrome 4 • Syndromic X-linked intellectual disability Najm type	Uncertain significance (May 20, 2023)
X-41520476-C-T			Uncertain significance (Sep 01, 2023)
X-41520483-C-T		Intellectual disability, CASK-related, X-linked	Likely benign (Apr 22, 2023)
X-41520494-T-C			Uncertain significance (Apr 15, 2022)
X-41520510-A-C		Intellectual disability, CASK-related, X-linked	Benign (Dec 17, 2022)
X-41520513-G-A		Intellectual disability, CASK-related, X-linked	Likely benign (Apr 24, 2022)
X-41520515-T-C			Uncertain significance (Nov 07, 2022)
X-41520521-T-C		Intellectual disability, CASK-related, X-linked	Likely benign (Dec 02, 2022)
X-41520521-TTG-T		Syndromic X-linked intellectual disability Najm type	Likely pathogenic (Apr 12, 2023)
X-41520522-T-C		Intellectual disability, CASK-related, X-linked	Likely benign (Aug 27, 2020)
X-41520523-G-T		Global developmental delay	Uncertain significance (Dec 06, 2022)
X-41520525-G-C		Intellectual disability, CASK-related, X-linked	Benign (Oct 07, 2022)
X-41520531-G-A		Intellectual disability, CASK-related, X-linked • Inborn genetic diseases	Likely benign (Jun 15, 2022)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP