PINK1-AS

Gene

PINK1 antisense RNA, the group of Antisense RNAs

Gene summary

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

Previous symbols:

PINK1-AS1

MANE transcript

N/A

Inheritance

—

ClinVar variants

P:1B:1

Top phenotype

Autosomal recessive early-onset Parkinson disease 6

Max pathogenic AF

—

Genomic locus

chr1:20,642,657-20,652,193

External References & Databases

Ensembl (ENSG00000117242)

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 PINK1-AS variants in ClinVar

13 Conditions Cataloged

Autosomal recessive early-onset Parkinson disease 6Total: 177

not providedTotal: 75

Congenital disorder of glycosylationTotal: 24

Parkinson Disease, RecessiveTotal: 20

not specifiedTotal: 6

Inborn genetic diseasesTotal: 3

PINK1-related conditionTotal: 1

NeuroblastomaTotal: 1

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)	1 clinvar				1 clinvar	2
Total	1	0	0	0	1	2

Highest pathogenic variant AF is 0.0000525465

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.

dbNSFP Gene Annotations

Source: dbNSFP