UBA6-DT

UBA6 divergent transcript, the group of Divergent transcripts

Basic information

Region (hg38): 4:67700955-68080952

Previous symbols: [ "UBA6-AS1" ]

Links

ENSG00000248049 ∙ NCBI:550112 ∙ ∙ HGNC:49083 ∙ ∙ ∙ 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 UBA6-DT gene.

• Hypogonadotropic hypogonadism 7 with or without anosmia (11 variants)
• not provided (5 variants)
• Amenorrhea (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the UBA6-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			1			1
non coding	13	20	200	24	21	278
Total	13	20	201	24	21

Highest pathogenic variant AF is 0.000197

Variants in UBA6-DT

This is a list of pathogenic ClinVar variants found in the UBA6-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
4-67701060-C-G		not specified	Uncertain significance (Dec 04, 2024)
4-67701070-C-G		not specified	Uncertain significance (May 18, 2023)
4-67701073-G-A		not specified	Uncertain significance (Dec 09, 2024)
4-67701082-T-C		not specified	Uncertain significance (May 04, 2025)
4-67701088-T-A		not specified	Uncertain significance (Jul 15, 2021)
4-67701103-G-A		not specified	Uncertain significance (Apr 03, 2025)
4-67701115-T-A		not specified	Uncertain significance (Jul 25, 2023)
4-67737404-A-G		Hypogonadotropic hypogonadism 7 with or without anosmia	Uncertain significance (Jan 13, 2018)
4-67737469-A-G		Hypogonadotropic hypogonadism 7 with or without anosmia	Uncertain significance (Jan 13, 2018)
4-67737561-T-C		Hypogonadotropic hypogonadism 7 with or without anosmia	Uncertain significance (Jan 13, 2018)
4-67737678-A-G		Hypogonadotropic hypogonadism 7 with or without anosmia	Uncertain significance (Jan 13, 2018)
4-67737708-T-C		Hypogonadotropic hypogonadism 7 with or without anosmia	Uncertain significance (Jan 13, 2018)
4-67737713-A-G		Hypogonadotropic hypogonadism 7 with or without anosmia	Likely benign (Jan 12, 2018)
4-67737732-G-A		Hypogonadotropic hypogonadism 7 with or without anosmia	Uncertain significance (Jan 13, 2018)
4-67737817-C-A		Hypogonadotropic hypogonadism 7 with or without anosmia	Benign (Mar 06, 2018)
4-67737892-G-A		Hypogonadotropic hypogonadism 7 with or without anosmia	Uncertain significance (Jan 13, 2018)
4-67737984-C-T		Hypogonadotropic hypogonadism 7 with or without anosmia	Benign (Jan 12, 2018)
4-67738039-A-G		Hypogonadotropic hypogonadism 7 with or without anosmia	Likely benign (Jan 13, 2018)
4-67738152-T-A		Hypogonadotropic hypogonadism 7 with or without anosmia	Uncertain significance (Jan 13, 2018)
4-67738232-A-G		Hypogonadotropic hypogonadism 7 with or without anosmia	Uncertain significance (Jan 13, 2018)
4-67738236-A-G		Hypogonadotropic hypogonadism 7 with or without anosmia	Uncertain significance (Jan 13, 2018)
4-67738284-C-T		Hypogonadotropic hypogonadism 7 with or without anosmia	Uncertain significance (Jan 13, 2018)
4-67738314-C-T		Hypogonadotropic hypogonadism 7 with or without anosmia	Benign (Jan 13, 2018)
4-67738315-T-C		Hypogonadotropic hypogonadism 7 with or without anosmia	Uncertain significance (Jan 12, 2018)
4-67738425-C-T		Hypogonadotropic hypogonadism 7 with or without anosmia	Benign (Jan 12, 2018)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP