PKD1-AS1

PKD1 antisense RNA 1, the group of Antisense RNAs

Basic information

Links

ENSG00000259933 ∙ NCBI:105371049 ∙ ∙ HGNC:56035 ∙ ∙ ∙ 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 PKD1-AS1 gene.

• Polycystic kidney disease, adult type (157 variants)
• not provided (150 variants)
• Polycystic kidney dysplasia (46 variants)
• not specified (37 variants)
• Inborn genetic diseases (23 variants)
• PKD1-related condition (21 variants)
• Autosomal dominant polycystic kidney disease (19 variants)
• Hypertensive disorder;Polycystic kidney dysplasia (1 variants)
• Enlarged kidney;Hyperechogenic kidneys;Multiple renal cysts;Anhydramnios (1 variants)
• See cases (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PKD1-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)			2	3		5
splice region						0
non coding	85	56	115	45	15	316
Total	85	56	117	48	15

Highest pathogenic variant AF is 0.00000657

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP