PTPN23-DT

PTPN23 divergent transcript, the group of Divergent transcripts

Basic information

Region (hg38): 3:47379079-47381620

Links

ENSG00000260236 ∙ ∙ ∙ HGNC:55397 ∙ ∙ ∙ 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 PTPN23-DT gene.

• not provided (18 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PTPN23-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			5	13		18
Total	0	0	5	13	0

Variants in PTPN23-DT

This is a list of pathogenic ClinVar variants found in the PTPN23-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
3-47381098-T-C			Uncertain significance (Jun 14, 2022)
3-47381105-C-T			Likely benign (Jan 10, 2024)
3-47381118-C-T			Uncertain significance (Dec 12, 2024)
3-47381121-A-C		Inborn genetic diseases	Uncertain significance (Mar 09, 2025)
3-47381129-G-C			Uncertain significance (Jul 25, 2023)
3-47381144-G-A			Likely benign (Jan 23, 2025)
3-47381147-C-G			Likely benign (May 23, 2024)
3-47381148-G-T			Uncertain significance (Jan 17, 2024)
3-47381156-T-C			Likely benign (Mar 02, 2024)
3-47381160-T-C			Uncertain significance (Jun 13, 2022)
3-47381172-G-C			Uncertain significance (Apr 11, 2022)
3-47381173-TGAA-T			Uncertain significance (Oct 15, 2024)
3-47381182-T-A			Likely pathogenic (Jul 07, 2023)
3-47381189-G-A			Likely benign (Dec 09, 2024)
3-47381189-G-C			Likely benign (Mar 18, 2022)
3-47381190-C-G			Likely benign (Oct 16, 2024)
3-47381192-T-G			Likely benign (May 18, 2024)
3-47381194-C-G			Likely benign (Aug 31, 2022)
3-47381195-C-T			Likely benign (Mar 15, 2021)
3-47381196-A-G			Likely benign (Jan 19, 2025)
3-47381197-T-C			Likely benign (Apr 19, 2022)
3-47381198-C-A			Likely benign (Dec 02, 2024)
3-47381199-T-TA			Likely benign (Oct 16, 2024)
3-47381200-T-A			Likely benign (Oct 16, 2024)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP