USH2A-AS2

Gene

USH2A antisense RNA 2, the group of Antisense RNAs

Gene summary

No gene description available in the current model. Review primary literature for detailed gene function and characteristics.

MANE transcript

N/A

Inheritance

—

ClinVar variants

P:5U:3B:4

Top phenotype

Usher syndrome type 2A

Max pathogenic AF

—

Genomic locus

chr1:216,072,454-216,086,917

External References & Databases

Ensembl (ENSG00000233620)

NCBI Gene (102723833)

GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to USH2A-AS2 variants in ClinVar

21 Conditions Cataloged

not providedTotal: 410

Usher syndrome type 2ATotal: 103

Retinitis pigmentosa 39Total: 91

not specifiedTotal: 35

Retinal dystrophyTotal: 21

Retinitis pigmentosa 39;Usher syndrome type 2ATotal: 16

Retinitis pigmentosaTotal: 14

Usher syndrome type 2A;Retinitis pigmentosa 39Total: 13

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript . Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous						0
missense						0
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)	2 clinvar	3 clinvar	3 clinvar	4 clinvar		12
Total	2	3	3	4	0	12

Highest pathogenic variant AF is 0.0000263172

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 0 of 0 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
No transcripts match your selected source or search query.