USH2A-AS1

USH2A antisense RNA 1, the group of Antisense RNAs

Basic information

Links

ENSG00000236292

∙ NCBI:105372918 ∙ ∙ HGNC:40606 ∙ ∙ ∙ 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-AS1 gene.

not provided (335 variants)
Usher syndrome type 2A (109 variants)
Retinitis pigmentosa 39 (80 variants)
not specified (30 variants)
Retinitis pigmentosa (28 variants)
Retinitis pigmentosa 39;Usher syndrome type 2A (18 variants)
Retinal dystrophy (17 variants)
Usher syndrome (15 variants)
Inborn genetic diseases (13 variants)
Usher syndrome type 2A;Retinitis pigmentosa 39 (10 variants)
Rare genetic deafness (6 variants)
Usher syndrome type 2 (4 variants)
USH2A-Related Disorders (2 variants)
Deafness (1 variants)
Hearing loss, autosomal recessive (1 variants)
Usher syndrome type 1 (1 variants)
Retinitis Pigmentosa, Recessive (1 variants)
- (1 variants)
Autosomal recessive retinitis pigmentosa (1 variants)
Retinitis pigmentosa-deafness syndrome (1 variants)
Cone/cone-rod dystrophy (1 variants)
Pigmentary retinopathy (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the USH2A-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	56 clinvar	60 clinvar	127 clinvar	137 clinvar	12 clinvar	392
Total	56	60	127	137	12

Highest pathogenic variant AF is 0.00000662

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP