PLD5P1

PLD5 pseudogene 1

Basic information

Region (hg38): 10:38094368-38360098

Links

ENSG00000283930 ∙ NCBI:100420618 ∙ ∙ HGNC:55072 ∙ ∙ ∙ 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 PLD5P1 gene.

• Inborn genetic diseases (21 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PLD5P1 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			21			21
Total	0	0	21	0	0

Variants in PLD5P1

This is a list of pathogenic ClinVar variants found in the PLD5P1 region.

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

Position	Type	Phenotype	Significance	ClinVar
10-38114876-C-T		not specified	Uncertain significance (Oct 28, 2024)
10-38115242-G-A		not specified	Uncertain significance (Aug 01, 2024)
10-38115247-G-T		not specified	Uncertain significance (Jan 23, 2023)
10-38117404-A-G		not specified	Uncertain significance (Mar 02, 2023)
10-38117419-A-G		not specified	Uncertain significance (Jun 30, 2024)
10-38117432-A-G		not specified	Uncertain significance (Jan 04, 2022)
10-38117434-G-A		not specified	Uncertain significance (Oct 12, 2022)
10-38117436-G-T		not specified	Uncertain significance (Feb 13, 2024)
10-38117469-A-C		not specified	Uncertain significance (Oct 20, 2024)
10-38117480-T-A		not specified	Uncertain significance (Aug 21, 2023)
10-38117500-C-T		not specified	Uncertain significance (Mar 07, 2024)
10-38117530-T-G		not specified	Uncertain significance (May 24, 2023)
10-38117573-A-G		not specified	Uncertain significance (Sep 20, 2023)
10-38117582-A-G		not specified	Uncertain significance (May 30, 2023)
10-38117602-T-A		not specified	Uncertain significance (Jul 09, 2024)
10-38117641-C-T		not specified	Uncertain significance (Jan 29, 2024)
10-38117657-C-T		not specified	Uncertain significance (Jun 28, 2024)
10-38117762-A-T		not specified	Uncertain significance (Jan 04, 2022)
10-38117885-A-G		not specified	Uncertain significance (Oct 20, 2021)
10-38117897-G-A		not specified	Uncertain significance (May 09, 2023)
10-38118034-G-C		not specified	Uncertain significance (Mar 06, 2023)
10-38118044-C-G		not specified	Uncertain significance (Feb 27, 2023)
10-38118179-C-T		not specified	Uncertain significance (Jun 17, 2024)
10-38118194-C-T		not specified	Uncertain significance (Jan 31, 2024)
10-38118203-G-A		not specified	Uncertain significance (Jan 03, 2024)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP