NLRP3P1

NLR family pyrin domain containing 3 pseudogene 1, the group of NLR family|Pyrin domain containing

Basic information

Region (hg38): X:107974078-107985008

Previous symbols: [ "NLRP3P" ]

Links

ENSG00000277883 ∙ NCBI:347402 ∙ ∙ HGNC:29886 ∙ ∙ ∙ 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 NLRP3P1 gene.

• Inborn genetic diseases (7 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the NLRP3P1 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			7			7
Total	0	0	7	0	0

Variants in NLRP3P1

This is a list of pathogenic ClinVar variants found in the NLRP3P1 region.

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

Position	Type	Phenotype	Significance	ClinVar
X-107981300-C-T		not specified	Uncertain significance (Nov 13, 2024)
X-107981327-C-T		not specified	Uncertain significance (Dec 23, 2022)
X-107981340-C-T		not specified	Uncertain significance (Nov 01, 2022)
X-107981343-C-G		not specified	Uncertain significance (Aug 17, 2021)
X-107981447-G-A		not specified	Uncertain significance (Apr 08, 2024)
X-107981456-G-A		not specified	Uncertain significance (Feb 10, 2022)
X-107981546-G-C		not specified	Uncertain significance (Jan 26, 2023)
X-107981703-T-G		not specified	Uncertain significance (Apr 17, 2024)
X-107981704-C-G		not specified	Uncertain significance (Apr 29, 2024)
X-107981724-C-T		not specified	Uncertain significance (Jan 21, 2025)
X-107981727-G-T		not specified	Uncertain significance (Feb 14, 2023)
X-107981760-T-C		not specified	Uncertain significance (Dec 07, 2024)
X-107981880-C-T		not specified	Uncertain significance (Apr 22, 2024)
X-107981931-G-A		not specified	Uncertain significance (Nov 15, 2023)
X-107981944-C-G		not specified	Uncertain significance (Aug 19, 2024)
X-107981950-G-C		not specified	Uncertain significance (May 23, 2024)
X-107981976-C-T		not specified	Uncertain significance (Mar 13, 2023)
X-107982090-C-G		not specified	Uncertain significance (Oct 10, 2023)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP