PANTR1

POU3F3 adjacent non-coding transcript 1, the group of Long non-coding RNAs with non-systematic symbols

Basic information

Region (hg38): 2:104656012-104857008

Previous symbols: [ "LINC01158" ]

Links

ENSG00000233639 ∙ NCBI:100506421 ∙ OMIM:618169 ∙ HGNC:49513 ∙ ∙ ∙ 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 PANTR1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PANTR1 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						0
Total	0	0	0	0	0

Variants in PANTR1

This is a list of pathogenic ClinVar variants found in the PANTR1 region.

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

Position	Type	Phenotype	Significance	ClinVar
2-104855511-A-G			Uncertain significance (May 02, 2022)
2-104855518-C-G			Uncertain significance (May 25, 2022)
2-104855531-C-T		POU3F3-related disorder	Likely benign (Nov 01, 2024)
2-104855585-C-G		Inborn genetic diseases	Uncertain significance (Mar 21, 2023)
2-104855592-G-A		POU3F3-related disorder	Uncertain significance (Feb 15, 2023)
2-104855597-T-C		POU3F3-related disorder	Likely benign (Apr 23, 2021)
2-104855600-C-T			Benign (Apr 01, 2022)
2-104855608-G-A		Snijders blok-fisher syndrome	Uncertain significance (Feb 09, 2021)
2-104855611-G-C		Inborn genetic diseases	Uncertain significance (Nov 09, 2024)
2-104855611-G-T			Uncertain significance (Jan 06, 2024)
2-104855612-T-TGGC			Likely benign (Sep 01, 2024)
2-104855624-CGGCGGCGGG-C		Inborn genetic diseases	Likely benign (Nov 02, 2022)
2-104855627-CGGCGGGGGCGGCGCAGGG-C			Likely benign (Apr 01, 2023)
2-104855630-C-G			Likely benign (Nov 01, 2023)
2-104855630-CG-C		Inborn genetic diseases	Likely pathogenic (Jun 21, 2019)
2-104855630-C-CGGG		Inborn genetic diseases	Benign (Aug 17, 2023)
2-104855647-G-C		Inborn genetic diseases	Uncertain significance (Apr 07, 2023)
2-104855648-C-G			Likely benign (Oct 01, 2024)
2-104855667-C-T		Inborn genetic diseases	Uncertain significance (Jun 17, 2024)
2-104855673-A-C		Snijders blok-fisher syndrome	Uncertain significance (Jan 29, 2023)
2-104855674-G-C			Uncertain significance (Apr 08, 2022)
2-104855700-C-CG		Snijders blok-fisher syndrome	Pathogenic (Dec 31, 2020)
2-104855701-G-T		POU3F3-related disorder	Uncertain significance (Sep 02, 2023)
2-104855704-G-A			Uncertain significance (Apr 26, 2023)
2-104855706-G-A		Inborn genetic diseases	Likely benign (Sep 22, 2023)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

Mouse Genome Informatics

• Gene name: Pantr1
• Phenotype: normal phenotype