PIK3IP1-DT

PIK3IP1 divergent transcript, the group of Divergent transcripts

Basic information

Region (hg38): 22:31292499-31338021

Previous symbols: [ "PIK3IP1-AS1" ]

Links

ENSG00000228839 ∙ NCBI:101929760 ∙ ∙ HGNC:41072 ∙ ∙ ∙ 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 PIK3IP1-DT gene.

• Inborn genetic diseases (6 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PIK3IP1-DT 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						0
non coding			6			6
Total	0	0	6	0	0

Variants in PIK3IP1-DT

This is a list of pathogenic ClinVar variants found in the PIK3IP1-DT region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
22-31326899-C-T		not specified	Uncertain significance (Nov 07, 2022)
22-31326937-A-G		not specified	Uncertain significance (Mar 29, 2023)
22-31327218-C-A		not specified	Uncertain significance (Mar 16, 2022)
22-31328800-G-T		not specified	Likely benign (Mar 30, 2024)
22-31328803-C-T		not specified	Likely benign (Mar 30, 2024)
22-31328807-G-A		not specified	Uncertain significance (Mar 30, 2024)
22-31328818-C-T		not specified	Likely benign (Mar 30, 2024)
22-31328834-A-G		not specified	Likely benign (Mar 30, 2024)
22-31328841-G-A		not specified	Uncertain significance (Mar 30, 2024)
22-31328842-C-T		not specified	Likely benign (Mar 30, 2024)
22-31328848-G-A		not specified	Likely benign (Mar 07, 2024)
22-31328913-C-T		not specified	Uncertain significance (Jun 13, 2023)
22-31335856-T-C		not specified	Uncertain significance (Dec 28, 2022)
22-31335862-G-A		not specified	Uncertain significance (May 05, 2023)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP