UBA6-DT
Basic information
Region (hg38): 4:67700955-68080952
Previous symbols: [ "UBA6-AS1" ]
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
- 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) | 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
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 |
---|---|---|---|---|
4-67701070-C-G | not specified | Uncertain significance (May 18, 2023) | ||
4-67701088-T-A | not specified | Uncertain significance (Jul 15, 2021) | ||
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) | ||
4-67738447-G-GT | Isolated GnRH Deficiency | Uncertain significance (Jun 14, 2016) | ||
4-67738448-T-TA | Isolated GnRH Deficiency | Uncertain significance (Jun 14, 2016) | ||
4-67738496-A-G | Hypogonadotropic hypogonadism 7 with or without anosmia | Uncertain significance (Jan 13, 2018) | ||
4-67738532-G-A | Hypogonadotropic hypogonadism 7 with or without anosmia | Uncertain significance (Jan 12, 2018) |
GnomAD
Source:
dbNSFP
Source: