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GeneBe

PINK1-AS

PINK1 antisense RNA, the group of Antisense RNAs

Basic information

Previous symbols: [ "PINK1-AS1" ]

Links

ENSG00000117242HGNC:38872GenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the PINK1-AS gene.

  • Autosomal recessive early-onset Parkinson disease 6 (177 variants)
  • not provided (75 variants)
  • Congenital disorder of glycosylation (24 variants)
  • Parkinson Disease, Recessive (20 variants)
  • not specified (6 variants)
  • Inborn genetic diseases (3 variants)
  • PINK1-related condition (1 variants)
  • Neuroblastoma (1 variants)
  • Parkinson disease, late-onset (1 variants)
  • See cases (1 variants)
  • Leprosy, susceptibility to, 1 (1 variants)
  • Parkinson disease 6 (1 variants)
  • Parkinson disease, autosomal recessive early-onset, digenic, PINK1/DJ1 (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PINK1-AS 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)
1
clinvar
1
clinvar
2
splice region
0
non coding
12
clinvar
5
clinvar
115
clinvar
73
clinvar
25
clinvar
230
Total 13 5 115 73 26

Highest pathogenic variant AF is 0.0000525

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

Haploinsufficiency Scores

pHI
0.196
hipred
hipred_score
ghis