WDR11-DT

WDR11 divergent transcript, the group of Divergent transcripts

Basic information

Region (hg38): 10:120759898-120851457

Previous symbols: [ "WDR11-AS1" ]

Links

ENSG00000227165 ∙ NCBI:283089 ∙ ∙ HGNC:27437 ∙ ∙ ∙ 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 WDR11-DT gene.

• not provided (15 variants)
• WDR11-related condition (1 variants)
• Amenorrhea (1 variants)
• Inborn genetic diseases (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the WDR11-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			4	4	9	17
Total	0	0	4	4	9

Variants in WDR11-DT

This is a list of pathogenic ClinVar variants found in the WDR11-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
10-120850879-C-G			Benign (Aug 09, 2018)
10-120850918-C-T			Likely benign (Oct 24, 2018)
10-120851124-G-A			Likely benign (Mar 29, 2019)
10-120851127-T-G			Benign (Aug 30, 2018)
10-120851134-A-C			Benign (Aug 09, 2018)
10-120851145-T-C			Benign (Aug 09, 2018)
10-120851270-A-G			Benign (Feb 14, 2019)
10-120851275-T-A			Benign (Aug 30, 2018)
10-120851281-C-T			Benign (Nov 15, 2018)
10-120851415-G-A			Benign (Nov 15, 2018)
10-120851417-C-T			Uncertain significance (May 17, 2024)
10-120851418-G-A			Benign (Oct 12, 2020)
10-120851426-G-T		Inborn genetic diseases	Conflicting classifications of pathogenicity (Dec 16, 2023)
10-120851427-C-T		Inborn genetic diseases	Uncertain significance (Oct 07, 2021)
10-120851428-C-G			Uncertain significance (Sep 20, 2022)
10-120851428-C-T		WDR11-related disorder	Uncertain significance (Oct 27, 2022)
10-120851436-G-A		Amenorrhea	Uncertain significance (Mar 08, 2021)
10-120851442-T-C		Inborn genetic diseases	Uncertain significance (Jul 17, 2024)
10-120851453-G-C			Likely benign (Apr 22, 2022)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP