CDH23-AS1

CDH23 antisense RNA 1, the group of Antisense RNAs

Basic information

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 ? Intron variants in splice region, excluding donor/acceptor (+/-2bp)						0
non coding ? UTR, intron and other, non coding variants	14 clinvar	7 clinvar	45 clinvar	66 clinvar	15 clinvar	147
Total	14	7	45	66	15

Highest pathogenic variant AF is 0.00000658

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP