USH2A-AS2

USH2A antisense RNA 2, the group of Antisense RNAs

Basic information

Region (hg38): 1:216072454-216086917

Links

ENSG00000233620 ∙ NCBI:102723833 ∙ ∙ HGNC:40605 ∙ ∙ ∙ 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 USH2A-AS2 gene.

• not provided (410 variants)
• Usher syndrome type 2A (103 variants)
• Retinitis pigmentosa 39 (91 variants)
• not specified (35 variants)
• Retinal dystrophy (21 variants)
• Retinitis pigmentosa 39;Usher syndrome type 2A (16 variants)
• Retinitis pigmentosa (14 variants)
• Usher syndrome type 2A;Retinitis pigmentosa 39 (13 variants)
• Inborn genetic diseases (12 variants)
• Usher syndrome (11 variants)
• Rare genetic deafness (5 variants)
• Usher syndrome type 2 (4 variants)
• USH2A-related condition (3 variants)
• Hearing impairment (2 variants)
• USH2A-Related Disorders (2 variants)
• 13 conditions (1 variants)
• Autosomal recessive retinitis pigmentosa (1 variants)
• Childhood onset hearing loss (1 variants)
• Malignant tumor of prostate (1 variants)
• Sensorineural hearing impairment (1 variants)
• Leber congenital amaurosis (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the USH2A-AS2 gene is commonly pathogenic or not. These statistics are base on transcript: . Only rare variants are included in the table.

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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense						0
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)	2	3	3	4		12
Total	2	3	3	4	0

Highest pathogenic variant AF is 0.0000263172

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP