UBA6-DT

UBA6 divergent transcript, the group of Divergent transcripts

Basic information

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 (123 variants)
• not provided (49 variants)
• Inborn genetic diseases (46 variants)
• Isolated GnRH Deficiency (14 variants)
• not specified (3 variants)
• Hypogonadotropic hypogonadism (2 variants)
• Amenorrhea (2 variants)
• Infertility (1 variants)
• Delayed puberty (1 variants)
• GNRHR-related condition (1 variants)
• Gonadotropin deficiency (1 variants)
• Isolated congenital hypogonadotropic hypogonadism (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		2			3
splice region						0
non coding	17	12	135	22	21	207
Total	18	12	137	22	21

Highest pathogenic variant AF is 0.000197

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP