UBE2H-DT

UBE2H divergent transcript, the group of Divergent transcripts

Basic information

Region (hg38): 7:129953068-130026989

Links

ENSG00000244036 ∙ ∙ ∙ HGNC:55615 ∙ ∙ ∙ 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 UBE2H-DT gene.

• Inborn genetic diseases (12 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the UBE2H-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)			1			1
splice region						0
non coding			10	1		11
Total	0	0	11	1	0

Variants in UBE2H-DT

This is a list of pathogenic ClinVar variants found in the UBE2H-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
7-130018692-C-T		not specified	Uncertain significance (Feb 27, 2024)
7-130022321-T-A		not specified	Uncertain significance (May 23, 2024)
7-130022329-G-A		not specified	Uncertain significance (Aug 02, 2021)
7-130022356-T-A		not specified	Uncertain significance (Nov 17, 2023)
7-130022405-C-T		not specified	Likely benign (Feb 16, 2023)
7-130023513-A-C		not specified	Uncertain significance (Mar 07, 2024)
7-130023533-C-T		not specified	Uncertain significance (Feb 14, 2023)
7-130023534-G-A		not specified	Uncertain significance (Dec 06, 2023)
7-130023537-C-G		not specified	Uncertain significance (Feb 06, 2023)
7-130023539-C-T		not specified	Uncertain significance (Jun 30, 2023)
7-130023551-C-T		not specified	Uncertain significance (Jan 10, 2023)
7-130023676-G-C		not specified	Uncertain significance (Sep 07, 2022)
7-130023686-C-T		not specified	Uncertain significance (Jan 26, 2023)
7-130023687-G-A		not specified	Uncertain significance (Aug 04, 2021)
7-130024301-G-A		not specified	Uncertain significance (Nov 28, 2024)
7-130024342-C-T		not specified	Uncertain significance (Jul 10, 2024)
7-130024343-G-A		not specified	Uncertain significance (Oct 20, 2021)
7-130024364-C-G		not specified	Uncertain significance (Mar 06, 2023)
7-130024412-T-C		not specified	Uncertain significance (Dec 19, 2022)
7-130026164-G-A		not specified	Uncertain significance (Sep 10, 2024)
7-130026251-C-A		not specified	Uncertain significance (Feb 15, 2023)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP