YAE1-DT

YAE1 divergent transcript, the group of Divergent transcripts

Basic information

Region (hg38): 7:39416177-39566373

Links

ENSG00000227172 ∙ NCBI:105375240 ∙ ∙ HGNC:55820 ∙ ∙ ∙ 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 YAE1-DT gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the YAE1-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						0
Total	0	0	0	0	0

Variants in YAE1-DT

This is a list of pathogenic ClinVar variants found in the YAE1-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
7-39433070-C-T		POU6F2-related disorder	Benign (Oct 21, 2019)
7-39433103-T-C			Likely benign (Jun 25, 2018)
7-39433109-A-G		POU6F2-related disorder	Benign (Oct 21, 2019)
7-39433133-C-T		POU6F2-related disorder	Likely benign (May 24, 2019)
7-39433185-G-A		not specified	Uncertain significance (Aug 05, 2024)
7-39433226-C-T			Likely benign (Dec 28, 2018)
7-39433230-C-A		not specified	Uncertain significance (Apr 05, 2023)
7-39433237-T-C		not specified	Uncertain significance (Mar 25, 2024)
7-39433243-C-T		not specified	Uncertain significance (Dec 22, 2023)
7-39433247-G-A		POU6F2-related disorder	Benign (Oct 21, 2019)
7-39433255-C-T		not specified	Uncertain significance (Nov 07, 2024)
7-39433273-C-T		Hypogonadotropic hypogonadism • not specified	Uncertain significance (Apr 18, 2023)
7-39433275-G-A			Likely benign (Dec 31, 2019)
7-39433277-C-G		POU6F2-related disorder	Likely benign (Apr 26, 2018)
7-39451559-G-A		POU6F2-related disorder	Likely benign (Apr 18, 2024)
7-39451599-C-T		not specified	Uncertain significance (Jan 04, 2024)
7-39451615-T-C		not specified	Uncertain significance (Nov 06, 2023)
7-39451625-T-A		not specified	Uncertain significance (Mar 28, 2024)
7-39451627-C-T		not specified	Uncertain significance (Nov 08, 2024)
7-39451629-G-A		not specified	Uncertain significance (Jan 17, 2025)
7-39451632-C-T		Hypogonadotropic hypogonadism	Uncertain significance (-)
7-39451633-G-A		not specified	Uncertain significance (Jun 29, 2023)
7-39451639-C-G		not specified	Uncertain significance (Jul 05, 2024)
7-39451651-C-T		not specified	Uncertain significance (Feb 27, 2024)
7-39451661-C-T		POU6F2-related disorder	Benign (Dec 31, 2019)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP