CDH23-AS1

CDH23 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 10:71508153-71511873

Previous symbols: [ "C10orf106", "NCRNA00223" ]

Links

ENSG00000223817 ∙ NCBI:102723377 ∙ ∙ HGNC:31433 ∙ ∙ ∙ 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 CDH23-AS1 gene.

• not provided (134 variants)
• Usher syndrome type 1 (28 variants)
• Autosomal recessive nonsyndromic hearing loss 12 (21 variants)
• Usher syndrome type 1D (18 variants)
• not specified (17 variants)
• Pituitary adenoma 5, multiple types (5 variants)
• Inborn genetic diseases (3 variants)
• CDH23-Related Disorders (2 variants)
• Retinitis pigmentosa (1 variants)
• Autosomal recessive nonsyndromic hearing loss 12;Pituitary adenoma 5, multiple types;Usher syndrome type 1D (1 variants)
• Usher syndrome type 1D;Autosomal recessive nonsyndromic hearing loss 12;Pituitary adenoma 5, multiple types (1 variants)
• USHER SYNDROME, TYPE ID/F, DIGENIC (1 variants)
• Pituitary adenoma 5, multiple types;Usher syndrome type 1D;Autosomal recessive nonsyndromic hearing loss 12 (1 variants)
• Nonsyndromic genetic hearing loss (1 variants)
• Childhood onset hearing loss (1 variants)
• Pituitary adenoma 5, multiple types;Autosomal recessive nonsyndromic hearing loss 12;Usher syndrome type 1D (1 variants)
• Usher syndrome (1 variants)
• Prelingual sensorineural hearing impairment;Usher syndrome type 1D (1 variants)
• Retinal dystrophy (1 variants)
• Rare genetic deafness (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CDH23-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	14	7	45	66	15	147
Total	14	7	45	66	15

Highest pathogenic variant AF is 0.00000658

Variants in CDH23-AS1

This is a list of pathogenic ClinVar variants found in the CDH23-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
10-71509929-C-A			Likely benign (Jul 14, 2018)
10-71509935-G-A			Benign (Jul 10, 2018)
10-71509957-T-C		Autosomal recessive nonsyndromic hearing loss 12 • Usher syndrome type 1D • Pituitary adenoma 5, multiple types	Benign (Jul 14, 2021)
10-71509962-C-T			Likely benign (Jul 14, 2018)
10-71510065-T-A			Likely benign (Dec 16, 2023)
10-71510066-C-T			Likely benign (Nov 01, 2023)
10-71510068-C-G			Likely benign (Dec 10, 2022)
10-71510072-G-T			Likely benign (Nov 03, 2021)
10-71510073-C-T			Likely benign (Oct 26, 2023)
10-71510075-A-G			Likely benign (Aug 29, 2023)
10-71510076-C-T			Likely benign (Apr 15, 2022)
10-71510078-C-G			Likely benign (Jun 14, 2023)
10-71510080-A-G			Pathogenic (Jul 30, 2014)
10-71510081-G-C		Autosomal recessive nonsyndromic hearing loss 12	Pathogenic (-)
10-71510086-TTC-T			Pathogenic (Sep 25, 2021)
10-71510094-C-A		Usher syndrome type 1 • Usher syndrome type 1D;Prelingual sensorineural hearing impairment • Inborn genetic diseases	Uncertain significance (Jul 27, 2024)
10-71510094-C-T		Inborn genetic diseases	Uncertain significance (Sep 25, 2023)
10-71510095-C-G			Likely benign (Sep 17, 2021)
10-71510096-C-G		Usher syndrome type 1 • CDH23-related disorder	Conflicting classifications of pathogenicity (Jan 26, 2024)
10-71510109-A-G		not specified • Usher syndrome type 1D • Autosomal recessive nonsyndromic hearing loss 12 • Usher syndrome type 1	Benign/Likely benign (Jan 31, 2024)
10-71510110-A-G			Likely benign (Jan 02, 2024)
10-71510119-CA-C			Pathogenic (Oct 27, 2021)
10-71510124-AC-A		Usher syndrome type 1D • USHER SYNDROME, TYPE ID/F, DIGENIC • Usher syndrome type 1 • Usher syndrome type 1D;Autosomal recessive nonsyndromic hearing loss 12;Pituitary adenoma 5, multiple types	Pathogenic (May 03, 2024)
10-71510124-A-AC			Pathogenic (Jul 04, 2022)
10-71510126-C-T		Usher syndrome type 1	Uncertain significance (Sep 02, 2021)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP