CSRP3-AS1

CSRP3 and E2F8 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 11:19196741-19310726

Links

ENSG00000255308 ∙ NCBI:105376580 ∙ ∙ HGNC:54183 ∙ ∙ ∙ 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 CSRP3-AS1 gene.

• Inborn genetic diseases (31 variants)
• not provided (12 variants)
• not specified (8 variants)
• Hypertrophic cardiomyopathy (6 variants)
• Dilated Cardiomyopathy, Dominant (6 variants)
• Hypertrophic cardiomyopathy 12 (6 variants)
• Cardiomyopathy (1 variants)
• Hypertrophic cardiomyopathy 12;Dilated cardiomyopathy 1M (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CSRP3-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			38	11	11	60
Total	0	0	38	11	11

Variants in CSRP3-AS1

This is a list of pathogenic ClinVar variants found in the CSRP3-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
11-19201971-G-A		not specified	Benign (May 05, 2015)
11-19201979-C-A		not specified	Likely benign (Sep 27, 2016)
11-19201995-G-A		not specified	Likely benign (Sep 12, 2017)
11-19201999-T-G		not specified • Hypertrophic cardiomyopathy 12 • Cardiomyopathy	Conflicting classifications of pathogenicity (Jan 13, 2018)
11-19202009-T-C		not specified	not provided (Jun 26, 2013)
11-19202013-T-C		not specified	not provided (Aug 09, 2012)
11-19202151-C-T		not specified	Likely benign (Oct 10, 2016)
11-19202157-C-T			Benign (Mar 03, 2015)
11-19202161-C-G		not specified	Likely benign (Dec 07, 2016)
11-19202232-G-A			Benign (Apr 08, 2019)
11-19210484-G-GCT		Hypertrophic cardiomyopathy • Dilated Cardiomyopathy, Dominant	Uncertain significance (Jun 14, 2016)
11-19210489-C-T		Hypertrophic cardiomyopathy 12	Uncertain significance (Jan 13, 2018)
11-19210490-T-C		Hypertrophic cardiomyopathy 12	Uncertain significance (Jan 12, 2018)
11-19210492-TC-T		Dilated Cardiomyopathy, Dominant • Hypertrophic cardiomyopathy	Uncertain significance (Jun 14, 2016)
11-19210493-CT-C		Hypertrophic cardiomyopathy • Dilated Cardiomyopathy, Dominant	Uncertain significance (Jun 14, 2016)
11-19210495-T-C		Hypertrophic cardiomyopathy 12	Uncertain significance (Jan 12, 2018)
11-19210512-TG-T		Hypertrophic cardiomyopathy • Dilated Cardiomyopathy, Dominant	Uncertain significance (Jun 14, 2016)
11-19210513-GA-G		Hypertrophic cardiomyopathy • Dilated Cardiomyopathy, Dominant	Uncertain significance (Jun 14, 2016)
11-19210527-C-T		Hypertrophic cardiomyopathy 12 • Hypertrophic cardiomyopathy 12;Dilated cardiomyopathy 1M	Uncertain significance (Jul 15, 2021)
11-19210543-G-A		Hypertrophic cardiomyopathy 12	Uncertain significance (Jan 12, 2018)
11-19210584-C-T		Dilated Cardiomyopathy, Dominant • Hypertrophic cardiomyopathy	Likely benign (Jun 14, 2016)
11-19224728-T-C			Benign (Jul 23, 2018)
11-19224788-C-T		not specified	Uncertain significance (May 08, 2023)
11-19225279-G-T		not specified	Uncertain significance (Nov 22, 2023)
11-19225332-G-A			Benign (May 08, 2018)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP